Product Details

SNP ID

rs144846584

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:3228661 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCAACAGGGACAGGCCCACCAGGA[C/T]GCTGGCGCCCAGCGAGGTCAGCCGC

Phenotype

MIM: 147520 MIM: 610206

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ITPA PubMed Links

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	2362	Missense Mutation	ATC,GTC	I747V	NP_001167560.1
NM_001174090.1	2362	Missense Mutation	ATC,GTC	I790V	NP_001167561.1
NM_032034.3	2362	Missense Mutation	ATC,GTC	I763V	NP_114423.1
XM_005260856.4	2362	Missense Mutation	ATC,GTC	I870V	XP_005260913.1
XM_005260857.1	2362	Missense Mutation	ATC,GTC	I728V	XP_005260914.1
XM_011529383.2	2362	Missense Mutation	ATC,GTC	I736V	XP_011527685.1
XM_011529384.1	2362	Missense Mutation	ATC,GTC	I728V	XP_011527686.1
XM_011529385.1	2362	Missense Mutation	ATC,GTC	I728V	XP_011527687.1
XM_017028093.1	2362	Missense Mutation	ATC,GTC	I868V	XP_016883582.1
XM_017028094.1	2362	Missense Mutation	ATC,GTC	I728V	XP_016883583.1
XM_017028095.1	2362	Missense Mutation	ATC,GTC	I709V	XP_016883584.1
XM_017028096.1	2362	Missense Mutation	ATC,GTC	I728V	XP_016883585.1
XM_017028097.1	2362	Intron			XP_016883586.1

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