Product Details

SNP ID
rs116070180
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:15011046 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCTACATCCAGCCCTGGCGCTTCC[C/G]CGTGGAGATGATCAAAGGCGGCGGC
Phenotype
MIM: 600637
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CCDC105 PubMed Links

Gene Details

Gene
CCDC105
Gene Name
coiled-coil domain containing 105
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_173482.2 320 Missense Mutation CCC,CGC P74R NP_775753.2
Gene
SLC1A6
Gene Name
solute carrier family 1 member 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001272087.1 320 Intron NP_001259016.1
NM_001272088.1 320 Intron NP_001259017.1
NM_005071.2 320 Intron NP_005062.1
XM_006722842.1 320 Intron XP_006722905.1
XM_006722844.1 320 Intron XP_006722907.1
XM_017027152.1 320 Intron XP_016882641.1

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