Product Details

SNP ID
rs1052999
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:3227614 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGCTAAAGGATAATGGGAGAGGGG[T/G]GGGCACATACCACTGCACCCCTACA
Phenotype
MIM: 147520 MIM: 610206
Polymorphism
T/G, Transversion 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 2924 Intron NP_001254552.1
NM_001324236.1 2924 Intron NP_001311165.1
NM_001324237.1 2924 Intron NP_001311166.1
NM_001324238.1 2924 Intron NP_001311167.1
NM_001324240.1 2924 Intron NP_001311169.1
NM_033453.3 2924 Intron NP_258412.1
NM_181493.3 2924 Intron NP_852470.1
XM_006723564.3 2924 Intron XP_006723627.1
XM_006723565.3 2924 Intron XP_006723628.1
XM_011529234.2 2924 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 2924 UTR 3 NP_001167560.1
NM_001174090.1 2924 UTR 3 NP_001167561.1
NM_032034.3 2924 UTR 3 NP_114423.1
XM_005260856.4 2924 UTR 3 XP_005260913.1
XM_005260857.1 2924 UTR 3 XP_005260914.1
XM_011529383.2 2924 UTR 3 XP_011527685.1
XM_011529384.1 2924 UTR 3 XP_011527686.1
XM_011529385.1 2924 UTR 3 XP_011527687.1
XM_017028093.1 2924 UTR 3 XP_016883582.1
XM_017028094.1 2924 UTR 3 XP_016883583.1
XM_017028095.1 2924 UTR 3 XP_016883584.1
XM_017028096.1 2924 UTR 3 XP_016883585.1
XM_017028097.1 2924 Intron XP_016883586.1

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