Product Details

SNP ID
rs143121807
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:101398552 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGTGTCCCTGAGACTGTCCACATG[A/G]AGACTCTTCTGGTAATGCCCGACAC
Phenotype
MIM: 611854 MIM: 603132
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MRPL50 PubMed Links

Gene Details

Gene
MRPL50
Gene Name
mitochondrial ribosomal protein L50
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_019051.2 Intron NP_061924.1
Gene
ZNF189
Gene Name
zinc finger protein 189
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278231.1 Intron NP_001265160.1
NM_001278232.1 Intron NP_001265161.1
NM_001278240.1 Intron NP_001265169.1
NM_003452.3 Intron NP_003443.2
NM_197977.2 Intron NP_932094.1
XM_006717280.3 Intron XP_006717343.1
XM_006717281.3 Intron XP_006717344.1
XM_011518998.2 Intron XP_011517300.1
XM_011518999.2 Intron XP_011517301.1
XM_017015121.1 Intron XP_016870610.1

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