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SNP ID: rs142312083
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:31295953 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGCATGTTCTTAGAAACATCCAGAT[A/G]TTTAAGATTCCACTGATAAGCAGTA
Phenotype: MIM: 158381 MIM: 613113 MIM: 164345
Polymorphism: A/G, 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	592	Intron			NP_000258.1
NM_001042492.2	592	Intron			NP_001035957.1
NM_001128147.2	592	Intron			NP_001121619.1
XM_005257983.2	592	Intron			XP_005258040.1
XM_005257984.2	592	Intron			XP_005258041.1
XM_006721922.2	592	Intron			XP_006721985.1
XM_006721924.2	592	Intron			XP_006721987.1
XM_006721925.2	592	Intron			XP_006721988.1
XM_006721926.3	592	Intron			XP_006721989.1
XM_011524852.2	592	Intron			XP_011523154.1
XM_011524857.2	592	Intron			XP_011523159.1
XM_017024689.1	592	Intron			XP_016880178.1
XM_017024690.1	592	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	592	Missense Mutation	CAT,TAT	H127Y	NP_002535.3

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