Product Details

Primer Sequences
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Primer Chromosome Location
Chr.6: 52464780-52465049 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
70570 c.1070A>C p.E357A Chr.6: 52465048-52465048 on Build GRCh38
6652023 c.1071G>T p.E357D Chr.6: 52465049-52465049 on Build GRCh38
1487847 c.1071G>C p.E357D Chr.6: 52465049-52465049 on Build GRCh38
3874776 c.932G>A p.C311Y Chr.6: 52464910-52464910 on Build GRCh38
4680325 c.1025T>C p.F342S Chr.6: 52465003-52465003 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs967424308 Chr.6: 52464872-52464872 on Build GRCh38
rs757932002 Chr.6: 52464987-52464987 on Build GRCh38
rs953235641 Chr.6: 52465008-52465008 on Build GRCh38
rs541545794 Chr.6: 52464843-52464843 on Build GRCh38
rs770295684 Chr.6: 52464890-52464891 on Build GRCh38
rs763543294 Chr.6: 52464864-52464864 on Build GRCh38
rs575699662 Chr.6: 52464842-52464842 on Build GRCh38
rs749929571 Chr.6: 52464981-52464981 on Build GRCh38
rs779882152 Chr.6: 52464994-52464994 on Build GRCh38
rs545574251 Chr.6: 52464840-52464840 on Build GRCh38
rs561675569 Chr.6: 52464915-52464915 on Build GRCh38
rs144447906 Chr.6: 52464995-52464995 on Build GRCh38
rs766568639 Chr.6: 52464938-52464938 on Build GRCh38
rs138430643 Chr.6: 52464945-52464945 on Build GRCh38
rs140734939 Chr.6: 52464815-52464815 on Build GRCh38
rs751733899 Chr.6: 52464939-52464939 on Build GRCh38
rs764694066 Chr.6: 52464972-52464972 on Build GRCh38
rs768533307 Chr.6: 52464893-52464893 on Build GRCh38
rs1017663393 Chr.6: 52464879-52464879 on Build GRCh38
rs144708524 Chr.6: 52464924-52464924 on Build GRCh38
rs764330879 Chr.6: 52464863-52464864 on Build GRCh38
rs114196074 Chr.6: 52464823-52464823 on Build GRCh38
rs776439005 Chr.6: 52464907-52464907 on Build GRCh38
rs780041751 Chr.6: 52464845-52464845 on Build GRCh38
rs763205369 Chr.6: 52464937-52464937 on Build GRCh38
rs149256861 Chr.6: 52464957-52464957 on Build GRCh38
rs577118789 Chr.6: 52464839-52464839 on Build GRCh38
rs796052416 Chr.6: 52464900-52464900 on Build GRCh38
rs756635361 Chr.6: 52464966-52464966 on Build GRCh38
rs773341807 Chr.6: 52464932-52464932 on Build GRCh38
rs569236695 Chr.6: 52464870-52464873 on Build GRCh38
rs767861983 Chr.6: 52464952-52464952 on Build GRCh38
rs147235722 Chr.6: 52464805-52464805 on Build GRCh38
rs746820461 Chr.6: 52464881-52464881 on Build GRCh38
rs562380248 Chr.6: 52464841-52464841 on Build GRCh38
rs377235781 Chr.6: 52465007-52465007 on Build GRCh38
rs386701134 Chr.6: 52464839-52464843 on Build GRCh38

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