Product Details

SNP ID
rs201648184
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:42708999 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCATCCTATTGCTTGCCTGTCTTC[C/T]GCTGCCGCAGGGCCTGCAGGAAGAC
Phenotype
MIM: 608116
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CCDC13 PubMed Links

Gene Details

Gene
CCDC13
Gene Name
coiled-coil domain containing 13
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_144719.3 1611 Missense Mutation CAG,CGG Q710R NP_653320.3
XM_005264898.3 1611 Missense Mutation CAG,CGG Q669R XP_005264955.1
XM_005264899.4 1611 Intron XP_005264956.1
XM_011533418.2 1611 Missense Mutation CAG,CGG Q641R XP_011531720.1
XM_011533419.2 1611 Missense Mutation CAG,CGG Q490R XP_011531721.1
XM_011533420.2 1611 Intron XP_011531722.1
XM_011533421.2 1611 Intron XP_011531723.1
XM_017005781.1 1611 Missense Mutation CAG,CGG Q490R XP_016861270.1
Gene
HHATL
Gene Name
hedgehog acyltransferase-like
There are no transcripts associated with this gene.

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