Product Details

SNP ID
rs149548686
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:180604908 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGTCCTATGAAAATGTCATGCAGA[C/G]TTCCTTGGGATTTGTTAATCCAGGA
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
There are no transcripts associated with this gene.

Gene
TTC14
Gene Name
tetratricopeptide repeat domain 14
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001042601.2 890 Missense Mutation ACT,AGT T253S NP_001036066.1
NM_001288582.1 890 Missense Mutation ACT,AGT T253S NP_001275511.1
NM_133462.3 890 Missense Mutation ACT,AGT T253S NP_597719.1
XM_011512439.2 890 Missense Mutation ACT,AGT T3S XP_011510741.1
XM_017005739.1 890 Intron XP_016861228.1
XM_017005740.1 890 Missense Mutation ACT,AGT T253S XP_016861229.1

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