Product Details

Primer Sequences
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Primer Chromosome Location
Chr.14: 67203065-67203338 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
4481539 c.251C>T p.P84L Chr.14: 67203185-67203185 on Build GRCh38
4488627 c.335C>T p.P112L Chr.14: 67203269-67203269 on Build GRCh38
6463631 c.168A>G p.R56R Chr.14: 67203102-67203102 on Build GRCh38
1562574 c.160-1G>A p.? Chr.14: 67203093-67203093 on Build GRCh38
4983561 c.273T>A p.H91Q Chr.14: 67203207-67203207 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs780812057 Chr.14: 67203138-67203138 on Build GRCh38
rs765181321 Chr.14: 67203199-67203199 on Build GRCh38
rs765224547 Chr.14: 67203107-67203107 on Build GRCh38
rs551037434 Chr.14: 67203130-67203130 on Build GRCh38
rs761997919 Chr.14: 67203198-67203198 on Build GRCh38
rs764382726 Chr.14: 67203096-67203096 on Build GRCh38
rs751322103 Chr.14: 67203126-67203126 on Build GRCh38
rs375936937 Chr.14: 67203173-67203173 on Build GRCh38
rs369603207 Chr.14: 67203298-67203298 on Build GRCh38
rs529974050 Chr.14: 67203286-67203286 on Build GRCh38
rs569444604 Chr.14: 67203147-67203147 on Build GRCh38
rs772518722 Chr.14: 67203165-67203165 on Build GRCh38
rs747357992 Chr.14: 67203170-67203170 on Build GRCh38
rs752289974 Chr.14: 67203268-67203268 on Build GRCh38
rs750269736 Chr.14: 67203111-67203111 on Build GRCh38
rs142970643 Chr.14: 67203131-67203131 on Build GRCh38
rs892095547 Chr.14: 67203288-67203288 on Build GRCh38
rs753360750 Chr.14: 67203284-67203284 on Build GRCh38
rs909727296 Chr.14: 67203127-67203127 on Build GRCh38
rs774556891 Chr.14: 67203263-67203265 on Build GRCh38
rs536839822 Chr.14: 67203189-67203189 on Build GRCh38
rs767163114 Chr.14: 67203231-67203231 on Build GRCh38
rs972663737 Chr.14: 67203179-67203179 on Build GRCh38
rs147757954 Chr.14: 67203167-67203167 on Build GRCh38
rs142516902 Chr.14: 67203218-67203218 on Build GRCh38
rs779449766 Chr.14: 67203188-67203188 on Build GRCh38
rs776925918 Chr.14: 67203176-67203176 on Build GRCh38
rs61990933 Chr.14: 67203203-67203203 on Build GRCh38
rs763214013 Chr.14: 67203157-67203158 on Build GRCh38
rs772529252 Chr.14: 67203308-67203308 on Build GRCh38
rs754765033 Chr.14: 67203220-67203220 on Build GRCh38
rs766316193 Chr.14: 67203211-67203211 on Build GRCh38
rs747726497 Chr.14: 67203146-67203146 on Build GRCh38
rs549208996 Chr.14: 67203277-67203277 on Build GRCh38
rs750962714 Chr.14: 67203274-67203274 on Build GRCh38
rs148508646 Chr.14: 67203119-67203119 on Build GRCh38
rs761977922 Chr.14: 67203098-67203098 on Build GRCh38
rs1028104525 Chr.14: 67203109-67203109 on Build GRCh38
rs773228840 Chr.14: 67203206-67203206 on Build GRCh38
rs1019871524 Chr.14: 67203142-67203142 on Build GRCh38
rs766715253 Chr.14: 67203214-67203221 on Build GRCh38
rs185063738 Chr.14: 67203113-67203113 on Build GRCh38
rs762837665 Chr.14: 67203208-67203208 on Build GRCh38
rs780700177 Chr.14: 67203303-67203303 on Build GRCh38
rs202231849 Chr.14: 67203148-67203148 on Build GRCh38
rs760940877 Chr.14: 67203090-67203090 on Build GRCh38
rs1039942972 Chr.14: 67203141-67203141 on Build GRCh38
rs376994460 Chr.14: 67203276-67203276 on Build GRCh38

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