Product Details

SNP ID
rs200213410
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:101399968 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGACCCAGCTCAGAGAAGCCTGTAT[A/G]AAGATGTCATGATGGAGAATTATGG
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
There are no transcripts associated with this gene.

Gene
ZNF189
Gene Name
zinc finger protein 189
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278231.1 64 Missense Mutation AAA,GAA K26E NP_001265160.1
NM_001278232.1 64 Missense Mutation AAA,GAA K25E NP_001265161.1
NM_001278240.1 64 Missense Mutation AAA,GAA K26E NP_001265169.1
NM_003452.3 64 Missense Mutation AAA,GAA K40E NP_003443.2
NM_197977.2 64 UTR 5 NP_932094.1
XM_006717280.3 64 UTR 5 XP_006717343.1
XM_006717281.3 64 UTR 5 XP_006717344.1
XM_011518998.2 64 UTR 5 XP_011517300.1
XM_011518999.2 64 Intron XP_011517301.1
XM_017015121.1 64 UTR 5 XP_016870610.1

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