Product Details

SNP ID

rs138783584

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:22601320 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGGGCAACAGGAGTCCATGGAGG[C/T]AGACACAGACCTAGAGGCAGGCCTG

Phenotype

MIM: 607359 MIM: 609722

Polymorphism

C/T, 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	599	Missense Mutation	GCA,GTA	A160V	NP_001013864.1
NM_001198827.1	599	Missense Mutation	GCA,GTA	A160V	NP_001185756.1
NM_173686.2	599	Missense Mutation	GCA,GTA	A160V	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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