Product Details

SNP ID

rs150535532

Assay Type

Functionally tested

NCBI dbSNP Submissions

8

Location

Chr.1:175014778 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCACACCACGCGGACGGGACGTC[A/G]TAACACACCGATTTCTGATTCTAAC

Phenotype

MIM: 606186 MIM: 611978

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CACYBP PubMed Links

Gene Details

Gene

CACYBP

Gene Name

calcyclin binding protein

There are no transcripts associated with this gene.

Gene

MRPS14

Gene Name

mitochondrial ribosomal protein S14

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022100.2	325	Missense Mutation	ACG,ATG	T93M	NP_071383.1

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