Product Details

Primer Sequences
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Primer Chromosome Location
Chr.1: 45508916-45509414 on Build GRCh38
Format
Each primer will be delivered in a single tube, dried-down
Quick Reference Guide
Primer Designer™ Tool Quick Reference
Ampliseq ID's

Gene Details

Gene Symbol
MMACHC
Entrez Gene ID
25974
Gene Name
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
Gene Aliases
cblC
UniGene
Hs.13024
Gene Chromosome Location
Chr.1: 45500184-45511266 on Build GRCh38
Transcripts
NM_015506.2 XM_005270724.4 XM_011541204.2

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
426366 c.552T>A p.P184P Chr.1: 45508918-45508918 on Build GRCh38
1343054 c.778C>T p.P260S Chr.1: 45509144-45509144 on Build GRCh38
7260456 c.766G>A p.A256T Chr.1: 45509132-45509132 on Build GRCh38
1470203 c.580G>A p.E194K Chr.1: 45508946-45508946 on Build GRCh38
4144028 c.759C>T p.T253T Chr.1: 45509125-45509125 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs765587825 Chr.1: 45509265-45509265 on Build GRCh38
rs200333851 Chr.1: 45509260-45509260 on Build GRCh38
rs941778714 Chr.1: 45509170-45509170 on Build GRCh38
rs769090155 Chr.1: 45509247-45509248 on Build GRCh38
rs1047315420 Chr.1: 45509264-45509264 on Build GRCh38
rs1026273880 Chr.1: 45509351-45509351 on Build GRCh38
rs772267565 Chr.1: 45509191-45509191 on Build GRCh38
rs751530925 Chr.1: 45508946-45508946 on Build GRCh38
rs57035602 Chr.1: 45509196-45509196 on Build GRCh38
rs538023671 Chr.1: 45508982-45508982 on Build GRCh38
rs369331149 Chr.1: 45509252-45509252 on Build GRCh38
rs398124294 Chr.1: 45508969-45508969 on Build GRCh38
rs369621922 Chr.1: 45509053-45509053 on Build GRCh38
rs12124178 Chr.1: 45509254-45509254 on Build GRCh38
rs747279739 Chr.1: 45509244-45509245 on Build GRCh38
rs764553546 Chr.1: 45509245-45509245 on Build GRCh38
rs751017212 Chr.1: 45509167-45509167 on Build GRCh38
rs770084300 Chr.1: 45509051-45509051 on Build GRCh38
rs752368805 Chr.1: 45508967-45508967 on Build GRCh38
rs373198842 Chr.1: 45509057-45509057 on Build GRCh38
rs755843695 Chr.1: 45509009-45509009 on Build GRCh38
rs202189863 Chr.1: 45509007-45509007 on Build GRCh38
rs752364744 Chr.1: 45509090-45509096 on Build GRCh38
rs780329206 Chr.1: 45509241-45509242 on Build GRCh38
rs575884162 Chr.1: 45509347-45509347 on Build GRCh38
rs866672378 Chr.1: 45509110-45509110 on Build GRCh38
rs745362752 Chr.1: 45509029-45509029 on Build GRCh38
rs367574509 Chr.1: 45509225-45509225 on Build GRCh38
rs553866522 Chr.1: 45509299-45509299 on Build GRCh38
rs201813445 Chr.1: 45509164-45509164 on Build GRCh38
rs569132013 Chr.1: 45509187-45509187 on Build GRCh38
rs376765500 Chr.1: 45509235-45509235 on Build GRCh38
rs764969563 Chr.1: 45509086-45509086 on Build GRCh38
rs747527726 Chr.1: 45508981-45508981 on Build GRCh38
rs765822392 Chr.1: 45509166-45509166 on Build GRCh38
rs749648988 Chr.1: 45509120-45509120 on Build GRCh38
rs948189041 Chr.1: 45509017-45509017 on Build GRCh38
rs759474531 Chr.1: 45509003-45509003 on Build GRCh38
rs765022621 Chr.1: 45509162-45509162 on Build GRCh38
rs1053431976 Chr.1: 45509087-45509087 on Build GRCh38
rs776623221 Chr.1: 45509149-45509149 on Build GRCh38
rs941271584 Chr.1: 45509321-45509321 on Build GRCh38
rs977290598 Chr.1: 45509157-45509157 on Build GRCh38
rs753855245 Chr.1: 45509153-45509179 on Build GRCh38
rs769732556 Chr.1: 45509215-45509215 on Build GRCh38
rs757033378 Chr.1: 45509078-45509078 on Build GRCh38
rs775262447 Chr.1: 45509063-45509063 on Build GRCh38
rs763806701 Chr.1: 45509067-45509067 on Build GRCh38
rs758763638 Chr.1: 45509239-45509240 on Build GRCh38
rs761677419 Chr.1: 45509155-45509155 on Build GRCh38
rs781527733 Chr.1: 45509042-45509042 on Build GRCh38
rs372444141 Chr.1: 45509186-45509186 on Build GRCh38
rs963914734 Chr.1: 45509106-45509106 on Build GRCh38
rs199641732 Chr.1: 45509016-45509016 on Build GRCh38
rs199964843 Chr.1: 45509066-45509066 on Build GRCh38
rs180697359 Chr.1: 45509312-45509312 on Build GRCh38
rs750002717 Chr.1: 45509092-45509092 on Build GRCh38
rs879071371 Chr.1: 45508953-45508953 on Build GRCh38
rs778053860 Chr.1: 45509340-45509340 on Build GRCh38
rs35219601 Chr.1: 45509177-45509177 on Build GRCh38
rs201601241 Chr.1: 45509136-45509136 on Build GRCh38
rs189520382 Chr.1: 45509306-45509306 on Build GRCh38
rs16832550 Chr.1: 45509104-45509104 on Build GRCh38
rs376653350 Chr.1: 45508992-45508992 on Build GRCh38
rs201266016 Chr.1: 45509032-45509032 on Build GRCh38
rs398124296 Chr.1: 45509024-45509026 on Build GRCh38
rs886046369 Chr.1: 45509226-45509226 on Build GRCh38
rs1035538754 Chr.1: 45509383-45509383 on Build GRCh38
rs564280688 Chr.1: 45509109-45509109 on Build GRCh38
rs796051997 Chr.1: 45508966-45508966 on Build GRCh38
rs750665238 Chr.1: 45509238-45509239 on Build GRCh38
rs538081709 Chr.1: 45509193-45509193 on Build GRCh38
rs200023742 Chr.1: 45509024-45509024 on Build GRCh38
rs779575471 Chr.1: 45509099-45509099 on Build GRCh38
rs765913293 Chr.1: 45508982-45508983 on Build GRCh38
rs774357624 Chr.1: 45509002-45509002 on Build GRCh38
rs375804663 Chr.1: 45509130-45509130 on Build GRCh38
rs201269886 Chr.1: 45509049-45509049 on Build GRCh38
rs756647292 Chr.1: 45509174-45509174 on Build GRCh38
rs762919217 Chr.1: 45508940-45508940 on Build GRCh38
rs796064513 Chr.1: 45509132-45509137 on Build GRCh38
rs773968018 Chr.1: 45509013-45509014 on Build GRCh38
rs376037114 Chr.1: 45509137-45509137 on Build GRCh38
rs779185730 Chr.1: 45509234-45509235 on Build GRCh38
rs201183360 Chr.1: 45509054-45509054 on Build GRCh38
rs763196419 Chr.1: 45508998-45508998 on Build GRCh38
rs766342926 Chr.1: 45508945-45508945 on Build GRCh38
rs757948554 Chr.1: 45509093-45509093 on Build GRCh38
rs763886783 Chr.1: 45509132-45509133 on Build GRCh38
rs577804554 Chr.1: 45508999-45508999 on Build GRCh38
rs747095198 Chr.1: 45509195-45509195 on Build GRCh38
rs998743567 Chr.1: 45509374-45509374 on Build GRCh38
rs891106099 Chr.1: 45509095-45509095 on Build GRCh38
rs748881103 Chr.1: 45508972-45508972 on Build GRCh38
rs771203889 Chr.1: 45509128-45509128 on Build GRCh38
rs398124295 Chr.1: 45508974-45508974 on Build GRCh38
rs555832918 Chr.1: 45509335-45509335 on Build GRCh38
rs1011649121 Chr.1: 45509325-45509325 on Build GRCh38
rs201025783 Chr.1: 45509214-45509214 on Build GRCh38
rs187494806 Chr.1: 45509132-45509132 on Build GRCh38
rs371753672 Chr.1: 45508983-45508983 on Build GRCh38
rs767339897 Chr.1: 45509066-45509066 on Build GRCh38
rs184974849 Chr.1: 45509014-45509014 on Build GRCh38
rs184787968 Chr.1: 45509297-45509297 on Build GRCh38
rs754568180 Chr.1: 45509182-45509182 on Build GRCh38
rs778330842 Chr.1: 45509176-45509176 on Build GRCh38
rs910738222 Chr.1: 45509180-45509180 on Build GRCh38
rs483352740 Chr.1: 45509015-45509015 on Build GRCh38
rs767496391 Chr.1: 45509062-45509062 on Build GRCh38
rs777075012 Chr.1: 45508937-45508937 on Build GRCh38
rs938459011 Chr.1: 45509004-45509004 on Build GRCh38
rs750572915 Chr.1: 45508939-45508939 on Build GRCh38
rs928323383 Chr.1: 45509161-45509161 on Build GRCh38
rs781513233 Chr.1: 45509248-45509249 on Build GRCh38
rs771074986 Chr.1: 45509055-45509055 on Build GRCh38
rs754862915 Chr.1: 45508950-45508950 on Build GRCh38
rs192924272 Chr.1: 45508997-45508997 on Build GRCh38
rs772078967 Chr.1: 45509131-45509131 on Build GRCh38
rs757384010 Chr.1: 45509206-45509206 on Build GRCh38
rs533256855 Chr.1: 45509129-45509129 on Build GRCh38
rs377439596 Chr.1: 45509065-45509065 on Build GRCh38
rs371647512 Chr.1: 45509227-45509227 on Build GRCh38
rs780979789 Chr.1: 45508964-45508964 on Build GRCh38
rs778566338 Chr.1: 45509025-45509025 on Build GRCh38
rs544461302 Chr.1: 45509386-45509386 on Build GRCh38
rs200515707 Chr.1: 45508968-45508968 on Build GRCh38
rs890516480 Chr.1: 45509355-45509355 on Build GRCh38
rs201680763 Chr.1: 45509008-45509008 on Build GRCh38
rs867614301 Chr.1: 45508985-45508985 on Build GRCh38
rs763851000 Chr.1: 45509012-45509012 on Build GRCh38
rs375442063 Chr.1: 45508938-45508938 on Build GRCh38
rs566121791 Chr.1: 45509384-45509384 on Build GRCh38
rs746114287 Chr.1: 45509188-45509188 on Build GRCh38
rs34258482 Chr.1: 45509165-45509165 on Build GRCh38
rs369990884 Chr.1: 45509069-45509069 on Build GRCh38
rs930228637 Chr.1: 45509232-45509232 on Build GRCh38
rs768524449 Chr.1: 45509213-45509213 on Build GRCh38
rs587776889 Chr.1: 45508975-45508975 on Build GRCh38
rs557994288 Chr.1: 45509220-45509220 on Build GRCh38
rs1053868671 Chr.1: 45508961-45508961 on Build GRCh38

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