Product Details

SNP ID
rs200457464
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:20737089 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCGCAGATTCCAGTTTAGCTTCTT[C/T]CCCATTTCCCTGCTTTGAGTTAAGC
Phenotype
MIM: 616662
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
THUMPD1 PubMed Links

Gene Details

Gene
THUMPD1
Gene Name
THUMP domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001304550.1 1020 Intron NP_001291479.1
NM_017736.4 1020 Intron NP_060206.2
XM_011545891.1 1020 Intron XP_011544193.1
XM_017023433.1 1020 Missense Mutation AAA,GAA K285E XP_016878922.1

View Full Product Details