Product Details

Primer Sequences
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Primer Chromosome Location
Chr.17: 31181323-31181468 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
NF1
Entrez Gene ID
4763
Gene Name
neurofibromin 1
Gene Aliases
NFNS, VRNF, WSS
UniGene
Hs.113577
Gene Chromosome Location
Chr.17: 31094927-31377677 on Build GRCh38
Transcripts
NM_000267.3 NM_001042492.2 NM_001128147.2 XM_005257983.2 XM_005257984.2 XM_006721922.2 XM_006721924.2 XM_006721925.2 XM_006721926.3 XM_011524852.2 XM_011524857.2 XM_017024689.1 XM_017024690.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
3402722 c.587-1G>A p.? Chr.17: 31181421-31181421 on Build GRCh38
5972133 c.633A>G p.A211A Chr.17: 31181468-31181468 on Build GRCh38
6938854 c.592G>A p.A198T Chr.17: 31181427-31181427 on Build GRCh38
54424 c.627G>T p.Q209H Chr.17: 31181462-31181462 on Build GRCh38
6444485 c.595T>A p.F199I Chr.17: 31181430-31181430 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs984772186 Chr.17: 31181353-31181353 on Build GRCh38
rs940581106 Chr.17: 31181408-31181408 on Build GRCh38
rs138411879 Chr.17: 31181429-31181429 on Build GRCh38
rs771577608 Chr.17: 31181385-31181385 on Build GRCh38
rs760631219 Chr.17: 31181392-31181392 on Build GRCh38
rs776533188 Chr.17: 31181402-31181402 on Build GRCh38
rs759349569 Chr.17: 31181411-31181412 on Build GRCh38
rs904361724 Chr.17: 31181442-31181442 on Build GRCh38
rs774520802 Chr.17: 31181408-31181409 on Build GRCh38
rs375188075 Chr.17: 31181419-31181419 on Build GRCh38
rs747724145 Chr.17: 31181380-31181380 on Build GRCh38
rs368765089 Chr.17: 31181387-31181387 on Build GRCh38
rs1057518360 Chr.17: 31181420-31181420 on Build GRCh38
rs1041614251 Chr.17: 31181352-31181352 on Build GRCh38
rs1040272156 Chr.17: 31181409-31181409 on Build GRCh38
rs863224663 Chr.17: 31181428-31181428 on Build GRCh38
rs200944363 Chr.17: 31181386-31181386 on Build GRCh38

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