Product Details

SNP ID
rs11074471
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:20737009 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TTGTCTGCCCCAGCTCCTCAGTATT[A/C]TCTGGTACCTGCTGGTTATTTTTTC
Phenotype
MIM: 616662
Polymorphism
A/C, Transversion 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 1100 Intron NP_001291479.1
NM_017736.4 1100 Intron NP_060206.2
XM_011545891.1 1100 Intron XP_011544193.1
XM_017023433.1 1100 Missense Mutation GAG,GAT E311D XP_016878922.1

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