Product Details

SNP ID
rs116418644
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:13566977 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGGCAAAGGAGATGAGGAGCCGA[A/G]CCTGATGCATTGTGATGGCCATCTG
Phenotype
MIM: 604258
Polymorphism
A/G, Transition 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_001007090.2 135 UTR 5 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_001164271.1 135 Intron NP_001157743.1
NM_001316668.1 135 Intron NP_001303597.1
NM_006094.4 135 Intron NP_006085.2
NM_024767.3 135 Intron NP_079043.3
NM_182643.2 135 Intron NP_872584.2
XM_005273374.1 135 Intron XP_005273431.1
XM_017012951.1 135 Intron XP_016868440.1
XM_017012952.1 135 Intron XP_016868441.1

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