Product Details

SNP ID
rs147320461
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:94510115 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTCTGGCCTACAACCTGGGCAAG[C/T]GGGAGATCAACCACTACTTCAGCGT
Phenotype
MIM: 611686
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CASD1 PubMed Links

Gene Details

Gene
CASD1
Gene Name
CAS1 domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_022900.4 96 Missense Mutation CGG,TGG R11W NP_075051.4
XM_006716092.3 96 Intron XP_006716155.1
XM_006716093.3 96 Missense Mutation CGG,TGG R11W XP_006716156.2
XM_011516495.2 96 Missense Mutation CGG,TGG R11W XP_011514797.1
XM_017012546.1 96 UTR 5 XP_016868035.1
XM_017012547.1 96 UTR 5 XP_016868036.1

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