Product Details

Primer Sequences
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Primer Chromosome Location
Chr.14: 66879864-66880089 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
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_001024218.1 NM_020806.4 XM_005267254.3 XM_011536340.2 XM_011536342.2 XM_011536343.2 XM_011536344.2 XM_011536345.2 XM_011536346.2 XM_011536347.2 XM_017020913.1 XM_017020914.1 XM_017020915.1 XM_017020916.1 XM_017020917.1 XM_017020918.1 XM_017020919.1 XM_017020920.1 XM_017020921.1 XM_017020922.1 XM_017020923.1 XM_017020924.1 XM_017020925.1 XM_017020926.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
5557586 c.303A>C p.K101N Chr.14: 66879947-66879947 on Build GRCh38
1686705 c.389+1G>A p.? Chr.14: 66880034-66880034 on Build GRCh38
5656690 c.313G>T p.E105* Chr.14: 66879957-66879957 on Build GRCh38
5122922 c.317G>A p.R106Q Chr.14: 66879961-66879961 on Build GRCh38
3396196 c.313G>C p.E105Q Chr.14: 66879957-66879957 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs377624916 Chr.14: 66879891-66879891 on Build GRCh38
rs369591351 Chr.14: 66880041-66880041 on Build GRCh38
rs780672547 Chr.14: 66880060-66880060 on Build GRCh38
rs753438956 Chr.14: 66880047-66880047 on Build GRCh38
rs868348511 Chr.14: 66879939-66879939 on Build GRCh38
rs377724622 Chr.14: 66880052-66880052 on Build GRCh38
rs375167601 Chr.14: 66879927-66879927 on Build GRCh38
rs1047755380 Chr.14: 66879966-66879966 on Build GRCh38
rs35843923 Chr.14: 66880030-66880031 on Build GRCh38
rs759432514 Chr.14: 66879959-66879959 on Build GRCh38
rs1001485812 Chr.14: 66879981-66879981 on Build GRCh38
rs766375525 Chr.14: 66879947-66879947 on Build GRCh38
rs774132595 Chr.14: 66879951-66879951 on Build GRCh38
rs868177928 Chr.14: 66880015-66880015 on Build GRCh38
rs761410805 Chr.14: 66879901-66879901 on Build GRCh38
rs752401035 Chr.14: 66879983-66879983 on Build GRCh38
rs769873271 Chr.14: 66879904-66879904 on Build GRCh38
rs767272331 Chr.14: 66880013-66880013 on Build GRCh38
rs930210572 Chr.14: 66879918-66879918 on Build GRCh38
rs761959684 Chr.14: 66879892-66879892 on Build GRCh38
rs762906107 Chr.14: 66879944-66879944 on Build GRCh38
rs1057338763 Chr.14: 66880025-66880025 on Build GRCh38
rs755780656 Chr.14: 66879990-66879990 on Build GRCh38
rs34844857 Chr.14: 66879968-66879968 on Build GRCh38
rs769774918 Chr.14: 66879918-66879918 on Build GRCh38

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