Product Details

SNP ID
rs144097790
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:214919 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTTCCGCGGCTACTCTGCGGCGCG[C/T]CAGGCCCCCGCTTTCCGCACCCCGC
Phenotype
MIM: 611432
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C9orf66 PubMed Links

Gene Details

Gene
C9orf66
Gene Name
chromosome 9 open reading frame 66
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152569.2 975 Missense Mutation ACG,GCG T160A NP_689782.2
Gene
DOCK8
Gene Name
dedicator of cytokinesis 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001190458.1 975 Intron NP_001177387.1
NM_001193536.1 975 Intron NP_001180465.1
NM_203447.3 975 UTR 5 NP_982272.2
XM_011518045.2 975 Intron XP_011516347.1
XM_011518046.2 975 Intron XP_011516348.1
XM_011518047.2 975 Intron XP_011516349.1
XM_011518048.2 975 Intron XP_011516350.1
XM_011518049.2 975 Intron XP_011516351.1
XM_017015173.1 975 Intron XP_016870662.1
XM_017015174.1 975 Intron XP_016870663.1

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