Product Details

SNP ID

rs138081870

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:75012791 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCGGGCGCTGCACAAGCAGAAAGA[C/T]GGCACTGAGTTCAAGAGCATCTACA

Phenotype

MIM: 603000

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CDR2L PubMed Links

Gene Details

Gene

CDR2L

Gene Name

cerebellar degeneration related protein 2 like

There are no transcripts associated with this gene.

Gene

MRPL58

Gene Name

mitochondrial ribosomal protein L58

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001303265.1	128	Silent Mutation	GAC,GAT	D35D	NP_001290194.1
NM_001545.2	128	Silent Mutation	GAC,GAT	D35D	NP_001536.1
XM_017024574.1	128	Intron			XP_016880063.1

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