Product Details

SNP ID

rs201771042

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:3227840 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCAAGTACTTGGCTTCAATGATTC[A/G]GGGCAGCAGGATATAGCTGTGGGGA

Phenotype

MIM: 147520 MIM: 610206

Polymorphism

A/G, 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	2698	Intron			NP_001254552.1
NM_001324236.1	2698	Intron			NP_001311165.1
NM_001324237.1	2698	Intron			NP_001311166.1
NM_001324238.1	2698	Intron			NP_001311167.1
NM_001324240.1	2698	Intron			NP_001311169.1
NM_033453.3	2698	Intron			NP_258412.1
NM_181493.3	2698	Intron			NP_852470.1
XM_006723564.3	2698	Intron			XP_006723627.1
XM_006723565.3	2698	Intron			XP_006723628.1
XM_011529234.2	2698	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	2698	Nonsense Mutation	CGA,TGA	R859*	NP_001167560.1
NM_001174090.1	2698	Nonsense Mutation	CGA,TGA	R902*	NP_001167561.1
NM_032034.3	2698	Nonsense Mutation	CGA,TGA	R875*	NP_114423.1
XM_005260856.4	2698	Nonsense Mutation	CGA,TGA	R982*	XP_005260913.1
XM_005260857.1	2698	Nonsense Mutation	CGA,TGA	R840*	XP_005260914.1
XM_011529383.2	2698	Nonsense Mutation	CGA,TGA	R848*	XP_011527685.1
XM_011529384.1	2698	Nonsense Mutation	CGA,TGA	R840*	XP_011527686.1
XM_011529385.1	2698	Nonsense Mutation	CGA,TGA	R840*	XP_011527687.1
XM_017028093.1	2698	Nonsense Mutation	CGA,TGA	R980*	XP_016883582.1
XM_017028094.1	2698	Nonsense Mutation	CGA,TGA	R840*	XP_016883583.1
XM_017028095.1	2698	Nonsense Mutation	CGA,TGA	R821*	XP_016883584.1
XM_017028096.1	2698	Nonsense Mutation	CGA,TGA	R840*	XP_016883585.1
XM_017028097.1	2698	Intron			XP_016883586.1

View Full Product Details