Product Details

SNP ID
rs201996796
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:180616553 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTTTGAAGGATAATACGGATCTCA[C/G]TATTTTCTTCTATGATATCAACTAA
Phenotype
MIM: 613798
Polymorphism
C/G, Transversion 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 2664 Missense Mutation ACT,AGT T850S 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 2664 Intron NP_001036066.1
NM_001288582.1 2664 Intron NP_001275511.1
NM_133462.3 2664 Intron NP_597719.1
XM_011512439.2 2664 Intron XP_011510741.1
XM_017005739.1 2664 Intron XP_016861228.1
XM_017005740.1 2664 Intron XP_016861229.1

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