Product Details

SNP ID

rs121909387

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.20:3228684 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACGCTGGCGCCCAGCGAGGTCAGC[T/C]GCGTCTCCTTCACGTTCACAATCCT

Phenotype

MIM: 147520 MIM: 610206

Polymorphism

T/C, Transition Substitution

Allele Nomenclature

Literature Links

ITPA PubMed Links

Additional Information

For this assay, SNP(s) [rs2281575] 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

ITPA

Gene Name

inosine triphosphatase

There are no transcripts associated with this gene.

Gene

SLC4A11

Gene Name

solute carrier family 4 member 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001174089.1	2339	Missense Mutation	CAG,CGG	Q739R	NP_001167560.1
NM_001174090.1	2339	Missense Mutation	CAG,CGG	Q782R	NP_001167561.1
NM_032034.3	2339	Missense Mutation	CAG,CGG	Q755R	NP_114423.1
XM_005260856.4	2339	Missense Mutation	CAG,CGG	Q862R	XP_005260913.1
XM_005260857.1	2339	Missense Mutation	CAG,CGG	Q720R	XP_005260914.1
XM_011529383.2	2339	Missense Mutation	CAG,CGG	Q728R	XP_011527685.1
XM_011529384.1	2339	Missense Mutation	CAG,CGG	Q720R	XP_011527686.1
XM_011529385.1	2339	Missense Mutation	CAG,CGG	Q720R	XP_011527687.1
XM_017028093.1	2339	Missense Mutation	CAG,CGG	Q860R	XP_016883582.1
XM_017028094.1	2339	Missense Mutation	CAG,CGG	Q720R	XP_016883583.1
XM_017028095.1	2339	Missense Mutation	CAG,CGG	Q701R	XP_016883584.1
XM_017028096.1	2339	Missense Mutation	CAG,CGG	Q720R	XP_016883585.1
XM_017028097.1	2339	Intron			XP_016883586.1

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