Product Details

SNP ID

rs181906346

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:24204292 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCAAACAGGGTGAGACACAGCACG[A/T]CTTGGTAGAGATCCTTAATAAAGAA

Phenotype

MIM: 604464

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

ITSN2 PubMed Links

Gene Details

Gene

ITSN2

Gene Name

intersectin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006277.2	5066	Missense Mutation	GAC,GTC	D1630V	NP_006268.2
NM_019595.3	5066	Missense Mutation	GAC,GTC	D1603V	NP_062541.3
NM_147152.2	5066	Intron			NP_671494.2

View Full Product Details