Product Details

SNP ID

rs144099793

Assay Type

Functionally Tested

NCBI dbSNP Submissions

2

Location

Chr.1:33324893 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGTCCTTGAGCATGCTGATGCGG[G/T]CGTAGATCTTCAGGGCGGGCCCCAG

Phenotype

MIM: 602979

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

A3GALT2 PubMed Links

Additional Information

For this assay, SNP(s) [rs11554674] 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

A3GALT2

Gene Name

alpha 1,3-galactosyltransferase 2

There are no transcripts associated with this gene.

Gene

MIR3605

Gene Name

microRNA 3605

There are no transcripts associated with this gene.

Gene

PHC2

Gene Name

polyhomeotic homolog 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004427.3	2980	Missense Mutation	GAC,GCC	D315A	NP_004418.2
NM_198040.2	2980	Missense Mutation	GAC,GCC	D850A	NP_932157.1
XM_005270570.1	2980	Missense Mutation	GAC,GCC	D315A	XP_005270627.1
XM_011540876.2	2980	Intron			XP_011539178.1
XM_011540877.2	2980	Intron			XP_011539179.1
XM_011540878.2	2980	Intron			XP_011539180.1
XM_017000513.1	2980	Missense Mutation	GAC,GCC	D873A	XP_016856002.1
XM_017000514.1	2980	Missense Mutation	GAC,GCC	D873A	XP_016856003.1
XM_017000515.1	2980	Missense Mutation	GAC,GCC	D873A	XP_016856004.1
XM_017000516.1	2980	Missense Mutation	GAC,GCC	D851A	XP_016856005.1
XM_017000517.1	2980	Missense Mutation	GAC,GCC	D851A	XP_016856006.1
XM_017000518.1	2980	Missense Mutation	GAC,GCC	D851A	XP_016856007.1
XM_017000519.1	2980	UTR 3			XP_016856008.1
XM_017000520.1	2980	Missense Mutation	GAC,GCC	D822A	XP_016856009.1
XM_017000521.1	2980	Missense Mutation	GAC,GCC	D822A	XP_016856010.1
XM_017000522.1	2980	Intron			XP_016856011.1

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