Product Details

SNP ID
rs201191082
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:80040118 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAGGAGGCATACGATAGTGTTAGC[A/G]GGGAGGCTGGTCTCCAAGGCTTCCA
Phenotype
MIM: 613799 MIM: 616637
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CCDC40 PubMed Links

Gene Details

Gene
CCDC40
Gene Name
coiled-coil domain containing 40
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001243342.1 431 Missense Mutation AGG,GGG R134G NP_001230271.1
NM_017950.3 431 Missense Mutation AGG,GGG R134G NP_060420.2
XM_005257492.4 431 Missense Mutation AGG,GGG R134G XP_005257549.1
XM_011524963.2 431 Missense Mutation AGG,GGG R104G XP_011523265.1
XM_011524964.2 431 Intron XP_011523266.1
XM_011524965.2 431 Missense Mutation AGG,GGG R134G XP_011523267.1
XM_017024807.1 431 Missense Mutation AGG,GGG R134G XP_016880296.1
Gene
TBC1D16
Gene Name
TBC1 domain family member 16
There are no transcripts associated with this gene.

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