Product Details

SNP ID

rs183913232

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.12:111418702 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGCCAAGAAGTTCCTGCCCTGGA[G/T]CCTGGCCCGGGAGCCGCCACCCGAG

Phenotype

MIM: 605093

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

SH2B3 PubMed Links

Additional Information

For this assay, SNP(s) [rs7972796] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

SH2B3

Gene Name

SH2B adaptor protein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001291424.1	603	Intron			NP_001278353.1
NM_005475.2	603	Missense Mutation	AGC,ATC	S186I	NP_005466.1
XM_005253818.4	603	Missense Mutation	AGC,ATC	S186I	XP_005253875.1
XM_005253819.4	603	Missense Mutation	AGC,ATC	S186I	XP_005253876.1
XM_006719180.3	603	Intron			XP_006719243.1
XM_011537719.2	603	Missense Mutation	AGC,ATC	S186I	XP_011536021.1
XM_011537720.2	603	Missense Mutation	AGC,ATC	S186I	XP_011536022.1
XM_011537721.2	603	Intron			XP_011536023.1

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