Product Details

SNP ID
rs140194473
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:31295295 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTTAGAGTTGCAGCTGCTGCTTCA[C/T]GTGAATTGATAGTCTCTGTGGATGT
Phenotype
MIM: 158381 MIM: 613113 MIM: 164345
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
EVI2B PubMed Links

Gene Details

Gene
EVI2B
Gene Name
ecotropic viral integration site 2B
There are no transcripts associated with this gene.

Gene
NF1
Gene Name
neurofibromin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000267.3 1250 Intron NP_000258.1
NM_001042492.2 1250 Intron NP_001035957.1
NM_001128147.2 1250 Intron NP_001121619.1
XM_005257983.2 1250 Intron XP_005258040.1
XM_005257984.2 1250 Intron XP_005258041.1
XM_006721922.2 1250 Intron XP_006721985.1
XM_006721924.2 1250 Intron XP_006721987.1
XM_006721925.2 1250 Intron XP_006721988.1
XM_006721926.3 1250 Intron XP_006721989.1
XM_011524852.2 1250 Intron XP_011523154.1
XM_011524857.2 1250 Intron XP_011523159.1
XM_017024689.1 1250 Intron XP_016880178.1
XM_017024690.1 1250 Intron XP_016880179.1
Gene
OMG
Gene Name
oligodendrocyte myelin glycoprotein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002544.4 1250 Missense Mutation CAT,CGT H346R NP_002535.3

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