Product Details

SNP ID

rs121909394

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:3228337 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGGAGCTCATGCCGAAGGCACAC[G/A]GCAGCAGCAGCTGAAGCACCTGCAG

Phenotype

MIM: 147520 MIM: 610206

Polymorphism

G/A, 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	2603	Intron			NP_001254552.1
NM_001324236.1	2603	Intron			NP_001311165.1
NM_001324237.1	2603	Intron			NP_001311166.1
NM_001324238.1	2603	Intron			NP_001311167.1
NM_001324240.1	2603	Intron			NP_001311169.1
NM_033453.3	2603	Intron			NP_258412.1
NM_181493.3	2603	Intron			NP_852470.1
XM_006723564.3	2603	Intron			XP_006723627.1
XM_006723565.3	2603	Intron			XP_006723628.1
XM_011529234.2	2603	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	2603	Missense Mutation	CCG,CTG	P827L	NP_001167560.1
NM_001174090.1	2603	Missense Mutation	CCG,CTG	P870L	NP_001167561.1
NM_032034.3	2603	Missense Mutation	CCG,CTG	P843L	NP_114423.1
XM_005260856.4	2603	Missense Mutation	CCG,CTG	P950L	XP_005260913.1
XM_005260857.1	2603	Missense Mutation	CCG,CTG	P808L	XP_005260914.1
XM_011529383.2	2603	Missense Mutation	CCG,CTG	P816L	XP_011527685.1
XM_011529384.1	2603	Missense Mutation	CCG,CTG	P808L	XP_011527686.1
XM_011529385.1	2603	Missense Mutation	CCG,CTG	P808L	XP_011527687.1
XM_017028093.1	2603	Missense Mutation	CCG,CTG	P948L	XP_016883582.1
XM_017028094.1	2603	Missense Mutation	CCG,CTG	P808L	XP_016883583.1
XM_017028095.1	2603	Missense Mutation	CCG,CTG	P789L	XP_016883584.1
XM_017028096.1	2603	Missense Mutation	CCG,CTG	P808L	XP_016883585.1
XM_017028097.1	2603	Intron			XP_016883586.1

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