Product Details

SNP ID
rs202220442
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:80039975 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGGGGAAGAGGAGGCTGTGTCCT[A/G]TGGAGATGCTGAAAGCGAAGAGGAA
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_001243342.1 288 Missense Mutation TAT,TGT Y86C NP_001230271.1
NM_017950.3 288 Missense Mutation TAT,TGT Y86C NP_060420.2
XM_005257492.4 288 Missense Mutation TAT,TGT Y86C XP_005257549.1
XM_011524963.2 288 Missense Mutation TAT,TGT Y56C XP_011523265.1
XM_011524964.2 288 Intron XP_011523266.1
XM_011524965.2 288 Missense Mutation TAT,TGT Y86C XP_011523267.1
XM_017024807.1 288 Missense Mutation TAT,TGT Y86C XP_016880296.1
Gene
TBC1D16
Gene Name
TBC1 domain family member 16
There are no transcripts associated with this gene.

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