Product Details

SNP ID

rs139395003

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:31304679 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTCTGATGTACCATTTACTTGAT[C/G]TTTTATTTTCTCTGTTTTGGGGTTG

Phenotype

MIM: 158381 MIM: 613113 MIM: 164345

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

EVI2B PubMed Links

Gene Details

Gene

EVI2B

Gene Name

ecotropic viral integration site 2B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006495.3	1196	Missense Mutation	CAT,GAT	H311D	NP_006486.3
XM_005257946.3	1196	Missense Mutation	CAT,GAT	H326D	XP_005258003.1

Gene

NF1

Gene Name

neurofibromin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000267.3	1196	Intron			NP_000258.1
NM_001042492.2	1196	Intron			NP_001035957.1
NM_001128147.2	1196	Intron			NP_001121619.1
XM_005257983.2	1196	Intron			XP_005258040.1
XM_005257984.2	1196	Intron			XP_005258041.1
XM_006721922.2	1196	Intron			XP_006721985.1
XM_006721924.2	1196	Intron			XP_006721987.1
XM_006721925.2	1196	Intron			XP_006721988.1
XM_006721926.3	1196	Intron			XP_006721989.1
XM_011524852.2	1196	Intron			XP_011523154.1
XM_011524857.2	1196	Intron			XP_011523159.1
XM_017024689.1	1196	Intron			XP_016880178.1
XM_017024690.1	1196	Intron			XP_016880179.1

Gene

OMG

Gene Name

oligodendrocyte myelin glycoprotein

There are no transcripts associated with this gene.

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