Product Details

Primer Sequences
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Primer Chromosome Location
Chr.1: 181719688-181719947 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
CACNA1E
Entrez Gene ID
777
Gene Name
calcium voltage-gated channel subunit alpha1 E
Gene Aliases
BII, CACH6, CACNL1A6, Cav2.3, gm139
UniGene
Hs.437444
Gene Chromosome Location
Chr.1: 181317712-181808084 on Build GRCh38
Transcripts
NM_000721.3 NM_001205293.1 NM_001205294.1 XM_017002243.1 XM_017002244.1 XM_017002245.1 XM_017002246.1 XM_017002247.1 XM_017002248.1 XM_017002249.1 XM_017002250.1 XM_017002251.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
5784877 c.494C>A p.A165E Chr.1: 181719785-181719785 on Build GRCh38
5992425 c.1545G>A p.T515T Chr.1: 181719804-181719804 on Build GRCh38
1336829 c.1723C>T p.R575W Chr.1: 181719835-181719835 on Build GRCh38
6541388 c.503G>T p.R168I Chr.1: 181719794-181719794 on Build GRCh38
6541384 c.1682G>T p.R561I Chr.1: 181719794-181719794 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs746650061 Chr.1: 181719887-181719887 on Build GRCh38
rs748946207 Chr.1: 181719711-181719711 on Build GRCh38
rs759729688 Chr.1: 181719873-181719873 on Build GRCh38
rs747209987 Chr.1: 181719898-181719899 on Build GRCh38
rs746862485 Chr.1: 181719768-181719768 on Build GRCh38
rs769896916 Chr.1: 181719913-181719913 on Build GRCh38
rs4651113 Chr.1: 181719732-181719732 on Build GRCh38
rs377297262 Chr.1: 181719808-181719808 on Build GRCh38
rs758808604 Chr.1: 181719721-181719721 on Build GRCh38
rs771977705 Chr.1: 181719747-181719747 on Build GRCh38
rs866473486 Chr.1: 181719829-181719829 on Build GRCh38
rs778465465 Chr.1: 181719723-181719723 on Build GRCh38
rs372308100 Chr.1: 181719804-181719804 on Build GRCh38
rs901346255 Chr.1: 181719716-181719716 on Build GRCh38
rs773004340 Chr.1: 181719756-181719756 on Build GRCh38
rs1000871987 Chr.1: 181719903-181719903 on Build GRCh38
rs892558345 Chr.1: 181719780-181719780 on Build GRCh38
rs765250737 Chr.1: 181719893-181719893 on Build GRCh38

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