Product Details

Primer Sequences
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Primer Chromosome Location
Chr.14: 67348916-67349177 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
3956164 c.304G>A p.A102T Chr.14: 67349040-67349040 on Build GRCh38
7269409 c.283C>T p.R95* Chr.14: 67349061-67349061 on Build GRCh38
4051931 c.287C>T p.A96V Chr.14: 67349057-67349057 on Build GRCh38
5783011 c.284G>T p.R95L Chr.14: 67349060-67349060 on Build GRCh38
6001176 c.307+5C>T p.? Chr.14: 67349032-67349032 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs768694190 Chr.14: 67349148-67349148 on Build GRCh38
rs767024105 Chr.14: 67349081-67349081 on Build GRCh38
rs372372939 Chr.14: 67349089-67349089 on Build GRCh38
rs780519018 Chr.14: 67348988-67348988 on Build GRCh38
rs747267273 Chr.14: 67349139-67349139 on Build GRCh38
rs766049551 Chr.14: 67349061-67349061 on Build GRCh38
rs754532623 Chr.14: 67349075-67349075 on Build GRCh38
rs1032061284 Chr.14: 67349092-67349092 on Build GRCh38
rs763001003 Chr.14: 67348953-67348953 on Build GRCh38
rs773197310 Chr.14: 67349057-67349057 on Build GRCh38
rs779319676 Chr.14: 67349004-67349004 on Build GRCh38
rs757823049 Chr.14: 67349114-67349114 on Build GRCh38
rs772228536 Chr.14: 67349012-67349012 on Build GRCh38
rs757698548 Chr.14: 67348998-67348998 on Build GRCh38
rs577997999 Chr.14: 67348958-67348958 on Build GRCh38
rs957870799 Chr.14: 67349104-67349104 on Build GRCh38
rs775747990 Chr.14: 67349018-67349018 on Build GRCh38
rs149633872 Chr.14: 67349116-67349116 on Build GRCh38
rs375655612 Chr.14: 67349133-67349133 on Build GRCh38
rs749814171 Chr.14: 67348996-67348996 on Build GRCh38
rs747155156 Chr.14: 67349021-67349021 on Build GRCh38
rs144347090 Chr.14: 67349134-67349134 on Build GRCh38
rs776792817 Chr.14: 67349031-67349031 on Build GRCh38
rs746269493 Chr.14: 67349126-67349126 on Build GRCh38
rs765259725 Chr.14: 67349056-67349056 on Build GRCh38
rs2274337 Chr.14: 67349074-67349074 on Build GRCh38
rs762779445 Chr.14: 67349060-67349060 on Build GRCh38
rs746857045 Chr.14: 67349011-67349011 on Build GRCh38
rs888061009 Chr.14: 67349032-67349032 on Build GRCh38
rs543079551 Chr.14: 67349154-67349154 on Build GRCh38
rs17852866 Chr.14: 67349082-67349082 on Build GRCh38
rs746220711 Chr.14: 67349009-67349009 on Build GRCh38
rs918318353 Chr.14: 67348963-67348963 on Build GRCh38
rs768800009 Chr.14: 67349024-67349024 on Build GRCh38
rs74339345 Chr.14: 67349044-67349044 on Build GRCh38

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