Product Details

SNP ID

rs112164955

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.8:19319597 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGTACATAGATCCTGATCTACTGG[C/T]AGAGCTCAGCGAAGAACAGAAACAG

Phenotype

MIM: 614968

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

SH2D4A PubMed Links

Additional Information

For this assay, SNP(s) [rs2280444] are located under a probe 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

SH2D4A

Gene Name

SH2 domain containing 4A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001174159.1	357	Missense Mutation	GCA,GTA	A17V	NP_001167630.1
NM_001174160.1	357	Intron			NP_001167631.1
NM_022071.3	357	Missense Mutation	GCA,GTA	A17V	NP_071354.2
XM_011544610.1	357	Missense Mutation	GCA,GTA	A17V	XP_011542912.1
XM_017013729.1	357	Missense Mutation	GCA,GTA	A17V	XP_016869218.1

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