Product Details

SNP ID
rs145684585
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:81985528 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGGTTCGCATCGCTTTGCAGCTG[A/G]ACGATGGCTCGAGGTTGCAGGACTC
Phenotype
MIM: 606236
Polymorphism
A/G, 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_001251888.1 403 Missense Mutation AAC,GAC N99D NP_001238817.1
NM_024083.3 403 Missense Mutation AAC,GAC N99D NP_076988.1
XM_011523601.2 403 Missense Mutation AAC,GAC N99D XP_011521903.1
XM_011523602.2 403 Missense Mutation AAC,GAC N99D XP_011521904.1
XM_017025036.1 403 Missense Mutation AAC,GAC N99D XP_016880525.1
XM_017025037.1 403 Missense Mutation AAC,GAC N99D XP_016880526.1
XM_017025038.1 403 Missense Mutation AAC,GAC N22D XP_016880527.1
XM_017025039.1 403 Missense Mutation AAC,GAC N22D XP_016880528.1
XM_017025040.1 403 Missense Mutation AAC,GAC N22D XP_016880529.1
XM_017025041.1 403 Missense Mutation AAC,GAC N22D XP_016880530.1
XM_017025042.1 403 Missense Mutation AAC,GAC N99D XP_016880531.1
XM_017025043.1 403 Missense Mutation AAC,GAC N22D XP_016880532.1
XM_017025044.1 403 Missense Mutation AAC,GAC N22D XP_016880533.1

View Full Product Details