Product Details

SNP ID

rs201407243

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:24203730 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTCGGCGGGTCATAGGGCCTTTGC[G/T]TTCCTGTTCTGTTCGAATTTTTGCC

Phenotype

MIM: 604464

Polymorphism

G/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	5167	Missense Mutation	AGC,CGC	S1664R	NP_006268.2
NM_019595.3	5167	Missense Mutation	AGC,CGC	S1637R	NP_062541.3
NM_147152.2	5167	Intron			NP_671494.2

View Full Product Details