Product Details

SNP ID
rs200277506
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:123937353 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCGGGCATAGCATCCACTGGTTCC[C/T]GCAAAAGGAGTTTCCTGCTCTCTGC
Phenotype
MIM: 605884
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CCDC92 PubMed Links

Gene Details

Gene
CCDC92
Gene Name
coiled-coil domain containing 92
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001304957.1 1125 Missense Mutation CAG,CGG Q234R NP_001291886.1
NM_001304958.1 1125 Missense Mutation CAG,CGG Q234R NP_001291887.1
NM_001304959.1 1125 Missense Mutation CAG,CGG Q234R NP_001291888.1
NM_001304960.1 1125 Missense Mutation CAG,CGG Q234R NP_001291889.1
NM_001304961.1 1125 Missense Mutation CAG,CGG Q217R NP_001291890.1
NM_025140.2 1125 Missense Mutation CAG,CGG Q234R NP_079416.1
XM_005253624.2 1125 Missense Mutation CAG,CGG Q234R XP_005253681.1
XM_017019984.1 1125 Missense Mutation CAG,CGG Q234R XP_016875473.1
Gene
DNAH10
Gene Name
dynein axonemal heavy chain 10
There are no transcripts associated with this gene.

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