Product Details

SNP ID

rs79657230

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:44374673 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCACACTCACCTGAGCTTCCCCTC[A/G]GGGCAGGCTGAGCGGGGGCACCGCA

Phenotype

MIM: 607759

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ITGA2B PubMed Links

Gene Details

Gene

ITGA2B

Gene Name

integrin subunit alpha 2b

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000419.4	3057	Nonsense Mutation	CGA,TGA	R977*	NP_000410.2
XM_011524749.1	3057	Intron			XP_011523051.1
XM_011524750.1	3057	Nonsense Mutation	CGA,TGA	R977*	XP_011523052.1

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