Product Details

SNP ID
rs199649763
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:180614952 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGCTCTTTTTGCTCTTAACATTA[C/T]TAGAGCTACTACTAGCACTAGATGG
Phenotype
MIM: 613798
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CCDC39 PubMed Links

Gene Details

Gene
CCDC39
Gene Name
coiled-coil domain containing 39
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_181426.1 2910 Missense Mutation AAT,AGT N932S NP_852091.1
Gene
TTC14
Gene Name
tetratricopeptide repeat domain 14
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001042601.2 2910 Intron NP_001036066.1
NM_001288582.1 2910 Intron NP_001275511.1
NM_133462.3 2910 Intron NP_597719.1
XM_011512439.2 2910 Intron XP_011510741.1
XM_017005739.1 2910 Intron XP_016861228.1
XM_017005740.1 2910 Intron XP_016861229.1

View Full Product Details