Product Details

SNP ID

rs199896935

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:186590448 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCGCCTTCAACCTAGACGTGGACA[C/G]TCCTGCCGAGTACTCTGGCCCCGAG

Phenotype

MIM: 193210

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ITGAV PubMed Links

Gene Details

Gene

ITGAV

Gene Name

integrin subunit alpha V

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001144999.2	386	Intron			NP_001138471.1
NM_001145000.2	386	Missense Mutation	ACT,AGT	T37S	NP_001138472.1
NM_002210.4	386	Missense Mutation	ACT,AGT	T37S	NP_002201.1

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