Product Details

SNP ID

rs121909391

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:3228260 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCCACTGCCCACCCGCCTGTACC[G/A]GATGGGGATCATGGCGATCATGATG

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	2680	Intron			NP_001254552.1
NM_001324236.1	2680	Intron			NP_001311165.1
NM_001324237.1	2680	Intron			NP_001311166.1
NM_001324238.1	2680	Intron			NP_001311167.1
NM_001324240.1	2680	Intron			NP_001311169.1
NM_033453.3	2680	Intron			NP_258412.1
NM_181493.3	2680	Intron			NP_852470.1
XM_006723564.3	2680	Intron			XP_006723627.1
XM_006723565.3	2680	Intron			XP_006723628.1
XM_011529234.2	2680	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	2680	Missense Mutation	CGC,TGC	R853C	NP_001167560.1
NM_001174090.1	2680	Missense Mutation	CGC,TGC	R896C	NP_001167561.1
NM_032034.3	2680	Missense Mutation	CGC,TGC	R869C	NP_114423.1
XM_005260856.4	2680	Missense Mutation	CGC,TGC	R976C	XP_005260913.1
XM_005260857.1	2680	Missense Mutation	CGC,TGC	R834C	XP_005260914.1
XM_011529383.2	2680	Missense Mutation	CGC,TGC	R842C	XP_011527685.1
XM_011529384.1	2680	Missense Mutation	CGC,TGC	R834C	XP_011527686.1
XM_011529385.1	2680	Missense Mutation	CGC,TGC	R834C	XP_011527687.1
XM_017028093.1	2680	Missense Mutation	CGC,TGC	R974C	XP_016883582.1
XM_017028094.1	2680	Missense Mutation	CGC,TGC	R834C	XP_016883583.1
XM_017028095.1	2680	Missense Mutation	CGC,TGC	R815C	XP_016883584.1
XM_017028096.1	2680	Missense Mutation	CGC,TGC	R834C	XP_016883585.1
XM_017028097.1	2680	Intron			XP_016883586.1

View Full Product Details