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SNP ID: rs201978138
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.8:22601001 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTGGGAGAGAGGTGACAAGTTCAGA[A/G]GTGTCGGCAGGGAGGCACTCTTTCT
Phenotype: MIM: 607359 MIM: 609722
Polymorphism: A/G, Transition 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	280	Missense Mutation	AGT,GGT	S54G	NP_001013864.1
NM_001198827.1	280	Missense Mutation	AGT,GGT	S54G	NP_001185756.1
NM_173686.2	280	Missense Mutation	AGT,GGT	S54G	NP_775957.2

Gene: CCAR2
Gene Name: cell cycle and apoptosis regulator 2

There are no transcripts associated with this gene.

Gene: LOC107986876
Gene Name: proline-rich proteoglycan 2-like

There are no transcripts associated with this gene.

Gene: PDLIM2
Gene Name: PDZ and LIM domain 2

There are no transcripts associated with this gene.

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