Product Details

SNP ID
rs147198825
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:81979202 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCCCAGGTTCTGGAGGACACGTGC[C/T]GGCGGCAGGACTTCAACCCCTGTGA
Phenotype
MIM: 606236
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ASPSCR1 PubMed Links

Gene Details

Gene
ASPSCR1
Gene Name
ASPSCR1, UBX domain containing tether for SLC2A4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001251888.1 166 Missense Mutation CGG,TGG R41W NP_001238817.1
NM_024083.3 166 Missense Mutation CGG,TGG R41W NP_076988.1
XM_011523601.2 166 Missense Mutation CGG,TGG R41W XP_011521903.1
XM_011523602.2 166 Missense Mutation CGG,TGG R41W XP_011521904.1
XM_017025036.1 166 Missense Mutation CGG,TGG R41W XP_016880525.1
XM_017025037.1 166 Missense Mutation CGG,TGG R41W XP_016880526.1
XM_017025038.1 166 UTR 5 XP_016880527.1
XM_017025039.1 166 UTR 5 XP_016880528.1
XM_017025040.1 166 UTR 5 XP_016880529.1
XM_017025041.1 166 Intron XP_016880530.1
XM_017025042.1 166 Missense Mutation CGG,TGG R41W XP_016880531.1
XM_017025043.1 166 Intron XP_016880532.1
XM_017025044.1 166 UTR 5 XP_016880533.1

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