Product Details

SNP ID
rs11555543
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:22604833 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTGTCCCCCCGGTGTCGCTGCCC[G/T]GGCCCGCAGGTGGGTTGGGGGGCCC
Phenotype
MIM: 607359 MIM: 609722
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
C8orf58 PubMed Links

Gene Details

Gene
C8orf58
Gene Name
chromosome 8 open reading frame 58
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001013842.2 496 Intron NP_001013864.1
NM_001198827.1 496 Intron NP_001185756.1
NM_173686.2 496 Intron NP_775957.2
Gene
CCAR2
Gene Name
cell cycle and apoptosis regulator 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_021174.5 496 Intron NP_066997.3
XM_011544603.1 496 UTR 5 XP_011542905.1
XM_011544604.1 496 UTR 5 XP_011542906.1
XM_017013717.1 496 Intron XP_016869206.1
Gene
LOC107986876
Gene Name
proline-rich proteoglycan 2-like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
XM_017014122.1 496 Silent Mutation AGG,CGG R166R XP_016869611.1
Gene
PDLIM2
Gene Name
PDZ and LIM domain 2
There are no transcripts associated with this gene.

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