Product Details

SNP ID
rs201121892
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:38234566 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATAAGTATGTTCCCTACTCGGAGAG[C/G]TTCAGCCAAGTTTTAGAGGTATTCT
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_001164232.1 918 Missense Mutation AGC,AGG S131R NP_001157704.1
NM_001164234.1 918 Missense Mutation AGC,AGG S131R NP_001157706.1
NM_015214.2 918 Missense Mutation AGC,AGG S131R NP_056029.2
XM_005273454.2 918 Missense Mutation AGC,AGG S131R XP_005273511.1
XM_005273455.3 918 Missense Mutation AGC,AGG S131R XP_005273512.1
XM_005273456.3 918 Missense Mutation AGC,AGG S131R XP_005273513.1
XM_011544456.1 918 Missense Mutation AGC,AGG S131R XP_011542758.1
XM_017013252.1 918 Missense Mutation AGC,AGG S131R XP_016868741.1
XM_017013253.1 918 Missense Mutation AGC,AGG S131R XP_016868742.1
XM_017013254.1 918 UTR 5 XP_016868743.1
XM_017013255.1 918 UTR 5 XP_016868744.1
XM_017013256.1 918 UTR 5 XP_016868745.1

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