Product Details

SNP ID
rs17879064
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:31104766 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAGTACTCTCAGGTGTTTAATGCT[A/G]TAGGATATAAACTATAACTGCTGTT
Phenotype
MIM: 613113
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
NF1 PubMed Links

Gene Details

Gene
NF1
Gene Name
neurofibromin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000267.3 Intron NP_000258.1
NM_001042492.2 Intron NP_001035957.1
NM_001128147.2 Intron NP_001121619.1
XM_005257983.2 Intron XP_005258040.1
XM_005257984.2 Intron XP_005258041.1
XM_006721922.2 Intron XP_006721985.1
XM_006721924.2 Intron XP_006721987.1
XM_006721925.2 Intron XP_006721988.1
XM_006721926.3 Intron XP_006721989.1
XM_011524852.2 Intron XP_011523154.1
XM_011524857.2 Intron XP_011523159.1
XM_017024689.1 Intron XP_016880178.1
XM_017024690.1 Intron XP_016880179.1

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