Product Details

SNP ID
rs199961859
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:44901573 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACTGGAGCGGAAGGATAAGATGG[A/G]AGGAAAGAGAACTGTGCCCTGGAAC
Phenotype
MIM: 614677 MIM: 603892 MIM: 137780
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CCDC103 PubMed Links

Gene Details

Gene
CCDC103
Gene Name
coiled-coil domain containing 103
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001258395.1 338 Missense Mutation GAA,GGA E66G NP_001245324.1
NM_001258396.1 338 Missense Mutation GAA,GGA E66G NP_001245325.1
NM_001258397.1 338 Missense Mutation GAA,GGA E66G NP_001245326.1
NM_001258398.1 338 Missense Mutation GAA,GGA E66G NP_001245327.1
NM_001258399.1 338 Missense Mutation GAA,GGA E66G NP_001245328.1
NM_213607.2 338 Missense Mutation GAA,GGA E66G NP_998772.1
Gene
EFTUD2
Gene Name
elongation factor Tu GTP binding domain containing 2
There are no transcripts associated with this gene.

Gene
GFAP
Gene Name
glial fibrillary acidic protein
There are no transcripts associated with this gene.

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