Product Details

SNP ID
rs79496236
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:81979219 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACACGTGCCGGCGGCAGGACTTCAA[C/T]CCCTGTGAATATGATCTGAAGTGAG
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_001251888.1 183 Silent Mutation AAC,AAT N46N NP_001238817.1
NM_024083.3 183 Silent Mutation AAC,AAT N46N NP_076988.1
XM_011523601.2 183 Silent Mutation AAC,AAT N46N XP_011521903.1
XM_011523602.2 183 Silent Mutation AAC,AAT N46N XP_011521904.1
XM_017025036.1 183 Silent Mutation AAC,AAT N46N XP_016880525.1
XM_017025037.1 183 Silent Mutation AAC,AAT N46N XP_016880526.1
XM_017025038.1 183 UTR 5 XP_016880527.1
XM_017025039.1 183 UTR 5 XP_016880528.1
XM_017025040.1 183 UTR 5 XP_016880529.1
XM_017025041.1 183 Intron XP_016880530.1
XM_017025042.1 183 Silent Mutation AAC,AAT N46N XP_016880531.1
XM_017025043.1 183 Intron XP_016880532.1
XM_017025044.1 183 UTR 5 XP_016880533.1

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