Product Details

SNP ID

rs145325200

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:3228535 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTGCTCCTTGAGCAGCAGGGCCA[C/G]GCGCTGGACGAGCTGGTTGCCATCG

Phenotype

MIM: 147520 MIM: 610206

Polymorphism

C/G, Transversion 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	2488	Missense Mutation	CTG,GTG	L789V	NP_001167560.1
NM_001174090.1	2488	Missense Mutation	CTG,GTG	L832V	NP_001167561.1
NM_032034.3	2488	Missense Mutation	CTG,GTG	L805V	NP_114423.1
XM_005260856.4	2488	Missense Mutation	CTG,GTG	L912V	XP_005260913.1
XM_005260857.1	2488	Missense Mutation	CTG,GTG	L770V	XP_005260914.1
XM_011529383.2	2488	Missense Mutation	CTG,GTG	L778V	XP_011527685.1
XM_011529384.1	2488	Missense Mutation	CTG,GTG	L770V	XP_011527686.1
XM_011529385.1	2488	Missense Mutation	CTG,GTG	L770V	XP_011527687.1
XM_017028093.1	2488	Missense Mutation	CTG,GTG	L910V	XP_016883582.1
XM_017028094.1	2488	Missense Mutation	CTG,GTG	L770V	XP_016883583.1
XM_017028095.1	2488	Missense Mutation	CTG,GTG	L751V	XP_016883584.1
XM_017028096.1	2488	Missense Mutation	CTG,GTG	L770V	XP_016883585.1
XM_017028097.1	2488	Intron			XP_016883586.1

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