Product Details

SNP ID
rs112061720
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:38233116 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGGCAGCTTGTATGAACCAGTTT[C/G]TCCCCATTGGTTTTATTGTAAGATA
Phenotype
MIM: 615003
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
DDHD2 PubMed Links

Gene Details

Gene
DDHD2
Gene Name
DDHD domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001164232.1 647 Missense Mutation TCT,TGT S41C NP_001157704.1
NM_001164234.1 647 Missense Mutation TCT,TGT S41C NP_001157706.1
NM_015214.2 647 Missense Mutation TCT,TGT S41C NP_056029.2
XM_005273454.2 647 Missense Mutation TCT,TGT S41C XP_005273511.1
XM_005273455.3 647 Missense Mutation TCT,TGT S41C XP_005273512.1
XM_005273456.3 647 Missense Mutation TCT,TGT S41C XP_005273513.1
XM_011544456.1 647 Missense Mutation TCT,TGT S41C XP_011542758.1
XM_017013252.1 647 Missense Mutation TCT,TGT S41C XP_016868741.1
XM_017013253.1 647 Missense Mutation TCT,TGT S41C XP_016868742.1
XM_017013254.1 647 UTR 5 XP_016868743.1
XM_017013255.1 647 UTR 5 XP_016868744.1
XM_017013256.1 647 UTR 5 XP_016868745.1

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