Product Details

Primer Sequences
Log in to view
Primer Chromosome Location
Chr.14: 67340208-67340527 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
ATP6V1D
Entrez Gene ID
51382
Gene Name
ATPase H+ transporting V1 subunit D
Gene Aliases
ATP6M, VATD, VMA8
UniGene
Hs.272630
Gene Chromosome Location
Chr.14: 67337864-67360003 on Build GRCh38
Transcripts
NM_015994.3 XM_017020925.1

Gene Symbol
GPHN
Entrez Gene ID
10243
Gene Name
gephyrin
Gene Aliases
GEPH, GPH, GPHRYN, HKPX1, MOCODC
UniGene
Hs.208765
Gene Chromosome Location
Chr.14: 66507407-67735831 on Build GRCh38
Transcripts
NM_015994.3 XM_017020925.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
6076231 c.577G>A p.E193K Chr.14: 67340465-67340465 on Build GRCh38
143400 c.536_537GG>AA p.R179Q Chr.14: 67340505-67340506 on Build GRCh38
1607865 c.551T>G p.L184R Chr.14: 67340491-67340491 on Build GRCh38
3968888 c.536G>A p.R179Q Chr.14: 67340506-67340506 on Build GRCh38
1607866 c.524-8delT p.? Chr.14: 67340526-67340526 on Build GRCh38
View More

SNP Detail

SNP ID Chromosome Location
rs761462451 Chr.14: 67340424-67340424 on Build GRCh38
rs757563160 Chr.14: 67340484-67340484 on Build GRCh38
rs893083838 Chr.14: 67340313-67340313 on Build GRCh38
rs934531153 Chr.14: 67340249-67340249 on Build GRCh38
rs555469817 Chr.14: 67340384-67340384 on Build GRCh38
rs758377727 Chr.14: 67340495-67340495 on Build GRCh38
rs1054669404 Chr.14: 67340253-67340253 on Build GRCh38
rs762351423 Chr.14: 67340456-67340456 on Build GRCh38
rs557472040 Chr.14: 67340478-67340478 on Build GRCh38
rs769330020 Chr.14: 67340428-67340428 on Build GRCh38
rs78017417 Chr.14: 67340243-67340243 on Build GRCh38
rs984377103 Chr.14: 67340314-67340314 on Build GRCh38
rs750560569 Chr.14: 67340493-67340493 on Build GRCh38
rs993708581 Chr.14: 67340504-67340504 on Build GRCh38
rs764568962 Chr.14: 67340469-67340469 on Build GRCh38
rs772839739 Chr.14: 67340443-67340443 on Build GRCh38
rs761217080 Chr.14: 67340468-67340468 on Build GRCh38
rs369607221 Chr.14: 67340488-67340488 on Build GRCh38
rs752248205 Chr.14: 67340456-67340457 on Build GRCh38
rs149627999 Chr.14: 67340498-67340498 on Build GRCh38
rs776358415 Chr.14: 67340422-67340422 on Build GRCh38
rs571901279 Chr.14: 67340258-67340258 on Build GRCh38
rs749561828 Chr.14: 67340296-67340296 on Build GRCh38
rs1012770552 Chr.14: 67340315-67340315 on Build GRCh38
rs780067544 Chr.14: 67340497-67340497 on Build GRCh38
rs767180514 Chr.14: 67340425-67340425 on Build GRCh38
rs753288296 Chr.14: 67340464-67340464 on Build GRCh38
rs201968492 Chr.14: 67340460-67340460 on Build GRCh38

View Full Product Details