Product Details

Primer Sequences
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Primer Chromosome Location
Chr.6: 127290015-127290509 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
ECHDC1
Entrez Gene ID
55862
Gene Name
ethylmalonyl-CoA decarboxylase 1
Gene Aliases
HEL-S-76, MMCD, dJ351K20.2
UniGene
Hs.486410
Gene Chromosome Location
Chr.6: 127288712-127343609 on Build GRCh38
Transcripts
NM_001002030.1 NM_001105544.1 NM_001105545.1 NM_001139510.1 NM_018479.3 XM_005267047.2 XM_005267048.1 XM_005267049.2 XM_005267050.2 XM_011535942.2 XM_017011056.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
269075 c.770C>T p.P257L Chr.6: 127290023-127290023 on Build GRCh38
450441 c.591C>A p.T197T Chr.6: 127290202-127290202 on Build GRCh38
6547626 c.711T>A p.D237E Chr.6: 127290082-127290082 on Build GRCh38
6172555 c.609C>A p.I203I Chr.6: 127290184-127290184 on Build GRCh38
7365814 c.640G>C p.G214R Chr.6: 127290153-127290153 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs199748832 Chr.6: 127290101-127290101 on Build GRCh38
rs190248594 Chr.6: 127290183-127290183 on Build GRCh38
rs746726547 Chr.6: 127290287-127290290 on Build GRCh38
rs771206438 Chr.6: 127290296-127290296 on Build GRCh38
rs1050232930 Chr.6: 127290385-127290385 on Build GRCh38
rs866620828 Chr.6: 127290103-127290103 on Build GRCh38
rs755038071 Chr.6: 127290125-127290125 on Build GRCh38
rs995246766 Chr.6: 127290373-127290373 on Build GRCh38
rs750464011 Chr.6: 127290402-127290402 on Build GRCh38
rs749150599 Chr.6: 127290161-127290161 on Build GRCh38
rs371024204 Chr.6: 127290208-127290208 on Build GRCh38
rs768489069 Chr.6: 127290194-127290194 on Build GRCh38
rs200867921 Chr.6: 127290102-127290102 on Build GRCh38
rs769608132 Chr.6: 127290056-127290056 on Build GRCh38
rs1025759996 Chr.6: 127290401-127290401 on Build GRCh38
rs776445895 Chr.6: 127290292-127290292 on Build GRCh38
rs774864779 Chr.6: 127290297-127290297 on Build GRCh38
rs139413951 Chr.6: 127290420-127290421 on Build GRCh38
rs901569811 Chr.6: 127290379-127290379 on Build GRCh38
rs373746771 Chr.6: 127290246-127290246 on Build GRCh38
rs763337074 Chr.6: 127290294-127290294 on Build GRCh38
rs944873448 Chr.6: 127290123-127290123 on Build GRCh38
rs770836268 Chr.6: 127290069-127290069 on Build GRCh38
rs182321852 Chr.6: 127290322-127290322 on Build GRCh38
rs1014791491 Chr.6: 127290446-127290446 on Build GRCh38
rs747891864 Chr.6: 127290042-127290042 on Build GRCh38
rs200430525 Chr.6: 127290312-127290312 on Build GRCh38
rs370647702 Chr.6: 127290318-127290318 on Build GRCh38
rs778012757 Chr.6: 127290252-127290252 on Build GRCh38
rs371948002 Chr.6: 127290303-127290303 on Build GRCh38
rs548405597 Chr.6: 127290291-127290293 on Build GRCh38
rs758937353 Chr.6: 127290111-127290111 on Build GRCh38
rs200123534 Chr.6: 127290100-127290101 on Build GRCh38
rs759593995 Chr.6: 127290233-127290233 on Build GRCh38
rs753846078 Chr.6: 127290462-127290462 on Build GRCh38
rs766833808 Chr.6: 127290118-127290118 on Build GRCh38
rs983706874 Chr.6: 127290081-127290081 on Build GRCh38
rs760302611 Chr.6: 127290110-127290110 on Build GRCh38
rs768400895 Chr.6: 127290285-127290285 on Build GRCh38
rs776081522 Chr.6: 127290192-127290192 on Build GRCh38
rs770887258 Chr.6: 127290310-127290311 on Build GRCh38
rs767146002 Chr.6: 127290087-127290087 on Build GRCh38
rs755849210 Chr.6: 127290159-127290159 on Build GRCh38
rs974900878 Chr.6: 127290485-127290485 on Build GRCh38
rs1019158032 Chr.6: 127290424-127290424 on Build GRCh38
rs751638074 Chr.6: 127290124-127290124 on Build GRCh38
rs771482467 Chr.6: 127290175-127290175 on Build GRCh38
rs781436479 Chr.6: 127290138-127290138 on Build GRCh38
rs759950147 Chr.6: 127290298-127290298 on Build GRCh38
rs966233368 Chr.6: 127290441-127290441 on Build GRCh38
rs775311548 Chr.6: 127290088-127290088 on Build GRCh38
rs770137102 Chr.6: 127290165-127290165 on Build GRCh38
rs369679516 Chr.6: 127290083-127290083 on Build GRCh38
rs1055924 Chr.6: 127290359-127290359 on Build GRCh38
rs762198351 Chr.6: 127290097-127290097 on Build GRCh38
rs186385104 Chr.6: 127290342-127290342 on Build GRCh38
rs373077734 Chr.6: 127290140-127290140 on Build GRCh38
rs747141612 Chr.6: 127290292-127290293 on Build GRCh38
rs760796769 Chr.6: 127290308-127290308 on Build GRCh38
rs111632438 Chr.6: 127290306-127290306 on Build GRCh38
rs753648793 Chr.6: 127290255-127290255 on Build GRCh38
rs745341355 Chr.6: 127290170-127290170 on Build GRCh38
rs187049479 Chr.6: 127290063-127290063 on Build GRCh38
rs779807438 Chr.6: 127290451-127290451 on Build GRCh38
rs528839285 Chr.6: 127290247-127290247 on Build GRCh38
rs757031616 Chr.6: 127290257-127290257 on Build GRCh38
rs931724628 Chr.6: 127290381-127290381 on Build GRCh38
rs896367161 Chr.6: 127290309-127290309 on Build GRCh38
rs759011379 Chr.6: 127290084-127290084 on Build GRCh38
rs199937080 Chr.6: 127290201-127290201 on Build GRCh38
rs767908267 Chr.6: 127290343-127290343 on Build GRCh38
rs752039805 Chr.6: 127290230-127290230 on Build GRCh38
rs778556912 Chr.6: 127290325-127290325 on Build GRCh38
rs774175204 Chr.6: 127290166-127290166 on Build GRCh38
rs984148022 Chr.6: 127290403-127290403 on Build GRCh38
rs370552656 Chr.6: 127290264-127290264 on Build GRCh38
rs374624047 Chr.6: 127290273-127290273 on Build GRCh38
rs760389235 Chr.6: 127290184-127290184 on Build GRCh38
rs112937937 Chr.6: 127290277-127290277 on Build GRCh38
rs897859386 Chr.6: 127290479-127290479 on Build GRCh38
rs201266835 Chr.6: 127290262-127290262 on Build GRCh38
rs773910117 Chr.6: 127290078-127290078 on Build GRCh38
rs756222398 Chr.6: 127290407-127290407 on Build GRCh38
rs765709127 Chr.6: 127290107-127290107 on Build GRCh38
rs992050614 Chr.6: 127290294-127290294 on Build GRCh38
rs779704473 Chr.6: 127290274-127290274 on Build GRCh38
rs551069160 Chr.6: 127290151-127290151 on Build GRCh38
rs773067991 Chr.6: 127290061-127290061 on Build GRCh38
rs763356475 Chr.6: 127290200-127290200 on Build GRCh38

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