Product Details

SNP ID

rs200311995

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:24203682 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGTCAAAACGGACCCAGACCTCCC[C/T]GGTGGGGACCTCATGCAGCAGCAGT

Phenotype

MIM: 604464

Polymorphism

C/T, Transition 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	5215	Missense Mutation	AGG,GGG	R1680G	NP_006268.2
NM_019595.3	5215	Missense Mutation	AGG,GGG	R1653G	NP_062541.3
NM_147152.2	5215	Intron			NP_671494.2

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