Product Details

SNP ID

rs121909396

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:3228299 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGATCATGATGAGGGGAAAGATCA[T/C]CTTCATGTAGGGCAGGGAGCTCATG

Phenotype

MIM: 147520 MIM: 610206

Polymorphism

T/C, Transition substitution

Allele Nomenclature

Literature Links

ITPA PubMed Links

Gene Details

Gene

ITPA

Gene Name

inosine triphosphatase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001267623.1	2641	Intron			NP_001254552.1
NM_001324236.1	2641	Intron			NP_001311165.1
NM_001324237.1	2641	Intron			NP_001311166.1
NM_001324238.1	2641	Intron			NP_001311167.1
NM_001324240.1	2641	Intron			NP_001311169.1
NM_033453.3	2641	Intron			NP_258412.1
NM_181493.3	2641	Intron			NP_852470.1
XM_006723564.3	2641	Intron			XP_006723627.1
XM_006723565.3	2641	Intron			XP_006723628.1
XM_011529234.2	2641	Intron			XP_011527536.1

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	2641	Missense Mutation	ATG,GTG	M840V	NP_001167560.1
NM_001174090.1	2641	Missense Mutation	ATG,GTG	M883V	NP_001167561.1
NM_032034.3	2641	Missense Mutation	ATG,GTG	M856V	NP_114423.1
XM_005260856.4	2641	Missense Mutation	ATG,GTG	M963V	XP_005260913.1
XM_005260857.1	2641	Missense Mutation	ATG,GTG	M821V	XP_005260914.1
XM_011529383.2	2641	Missense Mutation	ATG,GTG	M829V	XP_011527685.1
XM_011529384.1	2641	Missense Mutation	ATG,GTG	M821V	XP_011527686.1
XM_011529385.1	2641	Missense Mutation	ATG,GTG	M821V	XP_011527687.1
XM_017028093.1	2641	Missense Mutation	ATG,GTG	M961V	XP_016883582.1
XM_017028094.1	2641	Missense Mutation	ATG,GTG	M821V	XP_016883583.1
XM_017028095.1	2641	Missense Mutation	ATG,GTG	M802V	XP_016883584.1
XM_017028096.1	2641	Missense Mutation	ATG,GTG	M821V	XP_016883585.1
XM_017028097.1	2641	Intron			XP_016883586.1

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