Product Details

Primer Sequences
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Primer Chromosome Location
Chr.17: 31155889-31156053 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
5222938 c.122delA p.E41fs*3 Chr.17: 31156044-31156044 on Build GRCh38
41794 c.67A>T p.I23L Chr.17: 31155989-31155989 on Build GRCh38
4642094 c.81G>A p.Q27Q Chr.17: 31156003-31156003 on Build GRCh38
6205231 c.61-9T>A p.? Chr.17: 31155974-31155974 on Build GRCh38
7428624 c.117_131del15 p.K40_I44delKECLI Chr.17: 31156039-31156053 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs1057518884 Chr.17: 31155990-31155990 on Build GRCh38
rs887480700 Chr.17: 31155959-31155959 on Build GRCh38
rs755724473 Chr.17: 31155980-31155980 on Build GRCh38
rs768754175 Chr.17: 31155997-31155997 on Build GRCh38
rs773154842 Chr.17: 31155980-31155982 on Build GRCh38
rs771764281 Chr.17: 31156004-31156004 on Build GRCh38
rs760054898 Chr.17: 31155961-31155961 on Build GRCh38
rs769919216 Chr.17: 31155980-31155983 on Build GRCh38
rs766376354 Chr.17: 31155957-31155957 on Build GRCh38
rs199474725 Chr.17: 31156014-31156014 on Build GRCh38
rs767902028 Chr.17: 31155948-31155948 on Build GRCh38
rs780956522 Chr.17: 31155974-31155974 on Build GRCh38
rs755665139 Chr.17: 31155958-31155959 on Build GRCh38
rs182597952 Chr.17: 31155956-31155956 on Build GRCh38
rs545663276 Chr.17: 31155952-31155952 on Build GRCh38
rs542824372 Chr.17: 31155989-31155989 on Build GRCh38
rs551568608 Chr.17: 31155971-31155971 on Build GRCh38
rs786203280 Chr.17: 31156021-31156021 on Build GRCh38
rs760823948 Chr.17: 31156024-31156024 on Build GRCh38
rs753095720 Chr.17: 31155965-31155965 on Build GRCh38
rs767042846 Chr.17: 31155933-31155933 on Build GRCh38
rs376172637 Chr.17: 31155959-31155960 on Build GRCh38
rs587782686 Chr.17: 31156005-31156005 on Build GRCh38
rs786202864 Chr.17: 31156013-31156013 on Build GRCh38
rs371694497 Chr.17: 31155931-31155931 on Build GRCh38
rs753899522 Chr.17: 31155960-31155960 on Build GRCh38
rs917706625 Chr.17: 31155972-31155972 on Build GRCh38
rs772995929 Chr.17: 31156022-31156022 on Build GRCh38
rs777082784 Chr.17: 31155960-31155960 on Build GRCh38
rs758736448 Chr.17: 31155969-31155969 on Build GRCh38
rs748542958 Chr.17: 31155970-31155971 on Build GRCh38
rs748018099 Chr.17: 31156000-31156000 on Build GRCh38
rs1020636196 Chr.17: 31155924-31155924 on Build GRCh38
rs185325140 Chr.17: 31155964-31155964 on Build GRCh38
rs886052796 Chr.17: 31155979-31155979 on Build GRCh38
rs778973022 Chr.17: 31155998-31155998 on Build GRCh38
rs200246336 Chr.17: 31155970-31155970 on Build GRCh38
rs368403117 Chr.17: 31155934-31155934 on Build GRCh38
rs370026303 Chr.17: 31156027-31156027 on Build GRCh38
rs779453629 Chr.17: 31155983-31155983 on Build GRCh38

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