Product Details

SNP ID

rs186077345

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:24204391 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTGGTGTAGCTCTGGGAGCCCATG[A/C]TGATTTCACAGTATGGGTTGCTCTT

Phenotype

MIM: 604464

Polymorphism

A/C, 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	4967	Missense Mutation	AGC,ATC	S1597I	NP_006268.2
NM_019595.3	4967	Missense Mutation	AGC,ATC	S1570I	NP_062541.3
NM_147152.2	4967	Intron			NP_671494.2

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