Product Details

SNP ID
rs147909684
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:31318520 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCTACTTGTTTTGATCGTCTGAGA[G/T]AAGAGACTTTGTTTGCCAAAACCAC
Phenotype
MIM: 158380 MIM: 158381 MIM: 613113
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
EVI2A PubMed Links

Gene Details

Gene
EVI2A
Gene Name
ecotropic viral integration site 2A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001003927.2 759 Missense Mutation TAT,TCT Y188S NP_001003927.1
NM_014210.3 759 Missense Mutation TAT,TCT Y165S NP_055025.2
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_000267.3 759 Intron NP_000258.1
NM_001042492.2 759 Intron NP_001035957.1
NM_001128147.2 759 Intron NP_001121619.1
XM_005257983.2 759 Intron XP_005258040.1
XM_005257984.2 759 Intron XP_005258041.1
XM_006721922.2 759 Intron XP_006721985.1
XM_006721924.2 759 Intron XP_006721987.1
XM_006721925.2 759 Intron XP_006721988.1
XM_006721926.3 759 Intron XP_006721989.1
XM_011524852.2 759 Intron XP_011523154.1
XM_011524857.2 759 Intron XP_011523159.1
XM_017024689.1 759 Intron XP_016880178.1
XM_017024690.1 759 Intron XP_016880179.1

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