Product Details

SNP ID
rs148964021
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:3227464 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTATTCTCTAATGTGCGTCCAGCAA[A/G]TTCCTTACACAATCAAGGAAATGGT
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 3074 Intron NP_001254552.1
NM_001324236.1 3074 Intron NP_001311165.1
NM_001324237.1 3074 Intron NP_001311166.1
NM_001324238.1 3074 Intron NP_001311167.1
NM_001324240.1 3074 Intron NP_001311169.1
NM_033453.3 3074 Intron NP_258412.1
NM_181493.3 3074 Intron NP_852470.1
XM_006723564.3 3074 Intron XP_006723627.1
XM_006723565.3 3074 Intron XP_006723628.1
XM_011529234.2 3074 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 3074 UTR 3 NP_001167560.1
NM_001174090.1 3074 UTR 3 NP_001167561.1
NM_032034.3 3074 UTR 3 NP_114423.1
XM_005260856.4 3074 UTR 3 XP_005260913.1
XM_005260857.1 3074 UTR 3 XP_005260914.1
XM_011529383.2 3074 UTR 3 XP_011527685.1
XM_011529384.1 3074 UTR 3 XP_011527686.1
XM_011529385.1 3074 UTR 3 XP_011527687.1
XM_017028093.1 3074 UTR 3 XP_016883582.1
XM_017028094.1 3074 UTR 3 XP_016883583.1
XM_017028095.1 3074 UTR 3 XP_016883584.1
XM_017028096.1 3074 UTR 3 XP_016883585.1
XM_017028097.1 3074 Intron XP_016883586.1

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