Product Details

Primer Sequences
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Primer Chromosome Location
Chr.6: 52423809-52424317 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
EFHC1
Entrez Gene ID
114327
Gene Name
EF-hand domain containing 1
Gene Aliases
EJM1, dJ304B14.2
UniGene
Hs.403171
Gene Chromosome Location
Chr.6: 52420196-52495785 on Build GRCh38
Transcripts
NM_001172420.1 NM_018100.3 NR_033327.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
5357574 c.239C>T p.A80V Chr.6: 52424121-52424121 on Build GRCh38
1080242 c.144C>T p.G48G Chr.6: 52424026-52424026 on Build GRCh38
7265199 c.248C>T p.A83V Chr.6: 52424130-52424130 on Build GRCh38
5405570 c.250G>A p.D84N Chr.6: 52424132-52424132 on Build GRCh38
3874773 c.66A>G p.K22K Chr.6: 52423948-52423948 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs895619167 Chr.6: 52424089-52424089 on Build GRCh38
rs11552772 Chr.6: 52424108-52424108 on Build GRCh38
rs754914536 Chr.6: 52424104-52424104 on Build GRCh38
rs779993809 Chr.6: 52423950-52423950 on Build GRCh38
rs776050914 Chr.6: 52424057-52424057 on Build GRCh38
rs1030263743 Chr.6: 52423907-52423907 on Build GRCh38
rs569866011 Chr.6: 52423912-52423912 on Build GRCh38
rs573510709 Chr.6: 52424284-52424284 on Build GRCh38
rs764616948 Chr.6: 52424066-52424066 on Build GRCh38
rs78148357 Chr.6: 52423922-52423922 on Build GRCh38
rs771909816 Chr.6: 52424179-52424179 on Build GRCh38
rs374661532 Chr.6: 52423984-52423984 on Build GRCh38
rs746965960 Chr.6: 52424001-52424001 on Build GRCh38
rs762662186 Chr.6: 52424208-52424208 on Build GRCh38
rs894048889 Chr.6: 52424229-52424229 on Build GRCh38
rs542705984 Chr.6: 52423849-52423849 on Build GRCh38
rs766220714 Chr.6: 52424081-52424081 on Build GRCh38
rs149055334 Chr.6: 52424111-52424111 on Build GRCh38
rs543160745 Chr.6: 52424148-52424148 on Build GRCh38
rs145102896 Chr.6: 52424145-52424145 on Build GRCh38
rs998907326 Chr.6: 52423894-52423894 on Build GRCh38
rs746911392 Chr.6: 52423951-52423951 on Build GRCh38
rs988250483 Chr.6: 52423992-52423992 on Build GRCh38
rs749578871 Chr.6: 52424124-52424124 on Build GRCh38
rs770050215 Chr.6: 52423969-52423969 on Build GRCh38
rs750179126 Chr.6: 52423860-52423860 on Build GRCh38
rs796052415 Chr.6: 52423966-52423966 on Build GRCh38
rs760025678 Chr.6: 52424027-52424027 on Build GRCh38
rs550019546 Chr.6: 52423910-52423910 on Build GRCh38
rs368839861 Chr.6: 52424022-52424022 on Build GRCh38
rs897883633 Chr.6: 52423918-52423918 on Build GRCh38
rs117491059 Chr.6: 52424247-52424247 on Build GRCh38
rs750032565 Chr.6: 52423988-52423988 on Build GRCh38
rs749452195 Chr.6: 52424010-52424010 on Build GRCh38
rs748026322 Chr.6: 52424138-52424139 on Build GRCh38
rs905237444 Chr.6: 52424166-52424166 on Build GRCh38
rs202095470 Chr.6: 52424004-52424004 on Build GRCh38
rs756918322 Chr.6: 52423919-52423919 on Build GRCh38
rs556879197 Chr.6: 52424107-52424107 on Build GRCh38
rs200435907 Chr.6: 52423971-52423971 on Build GRCh38
rs372240827 Chr.6: 52424026-52424026 on Build GRCh38
rs535594753 Chr.6: 52423932-52423932 on Build GRCh38
rs761022753 Chr.6: 52424168-52424168 on Build GRCh38
rs1036485466 Chr.6: 52423883-52423883 on Build GRCh38
rs534406651 Chr.6: 52423987-52423987 on Build GRCh38
rs928396576 Chr.6: 52424047-52424047 on Build GRCh38
rs778636613 Chr.6: 52423928-52423928 on Build GRCh38
rs201860746 Chr.6: 52423941-52423941 on Build GRCh38
rs1026907257 Chr.6: 52424008-52424008 on Build GRCh38
rs778840322 Chr.6: 52423930-52423934 on Build GRCh38
rs140429638 Chr.6: 52423972-52423972 on Build GRCh38
rs753381272 Chr.6: 52423985-52423985 on Build GRCh38
rs548766587 Chr.6: 52423959-52423959 on Build GRCh38
rs760585999 Chr.6: 52424235-52424235 on Build GRCh38
rs775002342 Chr.6: 52423980-52423980 on Build GRCh38
rs374402088 Chr.6: 52423979-52423979 on Build GRCh38
rs750083920 Chr.6: 52424069-52424069 on Build GRCh38
rs779760887 Chr.6: 52423999-52423999 on Build GRCh38
rs557599173 Chr.6: 52424130-52424130 on Build GRCh38
rs748229072 Chr.6: 52424006-52424006 on Build GRCh38
rs781167987 Chr.6: 52424105-52424105 on Build GRCh38
rs1032581042 Chr.6: 52424190-52424190 on Build GRCh38
rs771434258 Chr.6: 52424012-52424012 on Build GRCh38
rs748379264 Chr.6: 52423962-52423962 on Build GRCh38
rs773598517 Chr.6: 52424007-52424007 on Build GRCh38
rs754931103 Chr.6: 52424003-52424003 on Build GRCh38
rs149627167 Chr.6: 52424131-52424131 on Build GRCh38
rs145367062 Chr.6: 52424092-52424092 on Build GRCh38
rs374661645 Chr.6: 52424033-52424033 on Build GRCh38
rs777941837 Chr.6: 52424121-52424121 on Build GRCh38
rs757990962 Chr.6: 52424076-52424076 on Build GRCh38
rs370815762 Chr.6: 52424042-52424042 on Build GRCh38
rs776099549 Chr.6: 52424154-52424154 on Build GRCh38
rs769310721 Chr.6: 52424187-52424187 on Build GRCh38
rs748668144 Chr.6: 52424287-52424287 on Build GRCh38
rs772699068 Chr.6: 52424204-52424204 on Build GRCh38
rs1009792884 Chr.6: 52424232-52424232 on Build GRCh38
rs375322518 Chr.6: 52423958-52423958 on Build GRCh38
rs1004039467 Chr.6: 52423882-52423883 on Build GRCh38
rs1002159631 Chr.6: 52424182-52424182 on Build GRCh38
rs761412395 Chr.6: 52424058-52424058 on Build GRCh38
rs557467591 Chr.6: 52423997-52423997 on Build GRCh38

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