Product Details

SNP ID
rs149488225
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:13567093 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAACTCTACTGATGAGGTACAGAC[G/T]TCCAGCTCATTCAGCTCCTCTGGAG
Phenotype
MIM: 604258
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
C8orf48 PubMed Links

Gene Details

Gene
C8orf48
Gene Name
chromosome 8 open reading frame 48
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001007090.2 251 Silent Mutation ACG,ACT T34T NP_001007091.1
Gene
DLC1
Gene Name
DLC1 Rho GTPase activating protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001164271.1 251 Intron NP_001157743.1
NM_001316668.1 251 Intron NP_001303597.1
NM_006094.4 251 Intron NP_006085.2
NM_024767.3 251 Intron NP_079043.3
NM_182643.2 251 Intron NP_872584.2
XM_005273374.1 251 Intron XP_005273431.1
XM_017012951.1 251 Intron XP_016868440.1
XM_017012952.1 251 Intron XP_016868441.1

View Full Product Details