Product Details

SNP ID
rs80002943
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:44374732 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGGACACGTTGAACCATGCGTGC[G/A]ACTGCAGCACAAACTGATCCAGAGG
Phenotype
MIM: 607759
Polymorphism
G/A, 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 2998 Missense Mutation TCG,TTG S957L NP_000410.2
XM_011524749.1 2998 Intron XP_011523051.1
XM_011524750.1 2998 Missense Mutation TCG,TTG S957L XP_011523052.1

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