Product Details

SNP ID
rs184032075
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.8:13567331 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAACTTCCAACAGAAATCACTCGG[G/T]TATCAGATGAAGAATTGAATGCCCT
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_001007090.2 489 Missense Mutation GTA,TTA V114L 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_001164271.1 489 Intron NP_001157743.1
NM_001316668.1 489 Intron NP_001303597.1
NM_006094.4 489 Intron NP_006085.2
NM_024767.3 489 Intron NP_079043.3
NM_182643.2 489 Intron NP_872584.2
XM_005273374.1 489 Intron XP_005273431.1
XM_017012951.1 489 Intron XP_016868440.1
XM_017012952.1 489 Intron XP_016868441.1

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