Product Details

SNP ID
rs147391900
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:73438269 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTGGGCAGTATGGTTGCCCGTCCC[A/G]TGGTTCTCAGTGGCATGTGCGGTGT
Phenotype
MIM: 614773 MIM: 114106
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MSS51 PubMed Links

Gene Details

Gene
MSS51
Gene Name
MSS51 mitochondrial translational activator
There are no transcripts associated with this gene.

Gene
PPP3CB
Gene Name
protein phosphatase 3 catalytic subunit beta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142353.2 1683 Silent Mutation CAC,CAT H517H NP_001135825.1
NM_001142354.2 1683 Silent Mutation CAC,CAT H507H NP_001135826.1
NM_001289968.1 1683 Intron NP_001276897.1
NM_001289969.1 1683 Intron NP_001276898.1
NM_021132.3 1683 Silent Mutation CAC,CAT H516H NP_066955.1
XM_005269944.1 1683 Silent Mutation CAC,CAT H506H XP_005270001.1
XM_017016379.1 1683 UTR 3 XP_016871868.1

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