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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