Product Details

SNP ID
rs11548434
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:18858195 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTTTGCTCCTAGAGAGGCCGCCAG[A/G]AGACCCGGCGCTTTCTTCCTTCTGC
Phenotype
MIM: 603762
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PRPSAP2 PubMed Links

Gene Details

Gene
PRPSAP2
Gene Name
phosphoribosyl pyrophosphate synthetase associated protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001243936.1 78 Intron NP_001230865.1
NM_001243940.1 78 Intron NP_001230869.1
NM_001243941.1 78 UTR 5 NP_001230870.1
NM_001243942.1 78 Intron NP_001230871.1
NM_002767.3 78 UTR 5 NP_002758.1
XM_005256725.2 78 UTR 5 XP_005256782.1
XM_005256726.1 78 Intron XP_005256783.1
XM_005256729.4 78 Intron XP_005256786.1
XM_017024864.1 78 Intron XP_016880353.1
XM_017024865.1 78 UTR 5 XP_016880354.1
XM_017024866.1 78 Intron XP_016880355.1
XM_017024867.1 78 Intron XP_016880356.1
XM_017024868.1 78 Intron XP_016880357.1
XM_017024869.1 78 UTR 5 XP_016880358.1
XM_017024870.1 78 Intron XP_016880359.1
XM_017024871.1 78 UTR 5 XP_016880360.1
XM_017024872.1 78 UTR 5 XP_016880361.1
XM_017024873.1 78 Intron XP_016880362.1
XM_017024874.1 78 Intron XP_016880363.1
XM_017024875.1 78 Intron XP_016880364.1
XM_017024876.1 78 Intron XP_016880365.1

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