Product Details

Primer Sequences
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Primer Chromosome Location
Chr.14: 67204475-67204740 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
FAM71D
Entrez Gene ID
161142
Gene Name
family with sequence similarity 71 member D
Gene Aliases
C14orf54
UniGene
Hs.412818
Gene Chromosome Location
Chr.14: 67188365-67228550 on Build GRCh38
Transcripts
NM_173526.3 XM_011536500.1 XM_011536502.1 XM_011536503.2 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_173526.3 XM_011536500.1 XM_011536502.1 XM_011536503.2 XM_017020925.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
6302561 c.440G>T p.R147L Chr.14: 67204617-67204617 on Build GRCh38
4937313 c.501G>A p.W167* Chr.14: 67204678-67204678 on Build GRCh38
4499575 c.545C>T p.S182F Chr.14: 67204722-67204722 on Build GRCh38
4546639 c.403G>T p.E135* Chr.14: 67204580-67204580 on Build GRCh38
4999128 c.434G>T p.S145I Chr.14: 67204611-67204611 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs760508830 Chr.14: 67204648-67204648 on Build GRCh38
rs781719053 Chr.14: 67204593-67204593 on Build GRCh38
rs769966975 Chr.14: 67204604-67204604 on Build GRCh38
rs17836680 Chr.14: 67204576-67204576 on Build GRCh38
rs373411552 Chr.14: 67204521-67204521 on Build GRCh38
rs200384336 Chr.14: 67204696-67204696 on Build GRCh38
rs764795935 Chr.14: 67204673-67204673 on Build GRCh38
rs746114858 Chr.14: 67204658-67204658 on Build GRCh38
rs763066507 Chr.14: 67204713-67204713 on Build GRCh38
rs1008101839 Chr.14: 67204660-67204660 on Build GRCh38
rs371610161 Chr.14: 67204516-67204516 on Build GRCh38
rs147934887 Chr.14: 67204580-67204580 on Build GRCh38
rs755421061 Chr.14: 67204590-67204590 on Build GRCh38
rs752059848 Chr.14: 67204587-67204587 on Build GRCh38
rs775200511 Chr.14: 67204629-67204629 on Build GRCh38
rs571469124 Chr.14: 67204715-67204715 on Build GRCh38
rs763072502 Chr.14: 67204514-67204514 on Build GRCh38
rs770942010 Chr.14: 67204609-67204609 on Build GRCh38
rs35117046 Chr.14: 67204605-67204605 on Build GRCh38
rs756717393 Chr.14: 67204579-67204579 on Build GRCh38
rs774294392 Chr.14: 67204616-67204616 on Build GRCh38
rs528275727 Chr.14: 67204606-67204606 on Build GRCh38
rs759433445 Chr.14: 67204626-67204626 on Build GRCh38
rs779008494 Chr.14: 67204716-67204716 on Build GRCh38
rs759708233 Chr.14: 67204586-67204586 on Build GRCh38
rs747400567 Chr.14: 67204548-67204548 on Build GRCh38
rs768123053 Chr.14: 67204680-67204680 on Build GRCh38
rs752382155 Chr.14: 67204573-67204573 on Build GRCh38
rs763782646 Chr.14: 67204578-67204578 on Build GRCh38
rs369185375 Chr.14: 67204520-67204520 on Build GRCh38
rs939281006 Chr.14: 67204561-67204561 on Build GRCh38
rs777873165 Chr.14: 67204701-67204701 on Build GRCh38
rs377609522 Chr.14: 67204572-67204572 on Build GRCh38
rs748523326 Chr.14: 67204598-67204598 on Build GRCh38
rs767251264 Chr.14: 67204567-67204567 on Build GRCh38
rs546523990 Chr.14: 67204678-67204678 on Build GRCh38
rs763903057 Chr.14: 67204715-67204716 on Build GRCh38
rs749921258 Chr.14: 67204675-67204675 on Build GRCh38
rs749477817 Chr.14: 67204704-67204704 on Build GRCh38
rs756436706 Chr.14: 67204698-67204698 on Build GRCh38
rs966782888 Chr.14: 67204624-67204624 on Build GRCh38
rs140764192 Chr.14: 67204627-67204627 on Build GRCh38
rs753469222 Chr.14: 67204661-67204661 on Build GRCh38
rs773212220 Chr.14: 67204501-67204501 on Build GRCh38
rs761247686 Chr.14: 67204666-67204666 on Build GRCh38

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