Product Details

SNP ID

rs2253258

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:101398872 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGGCGGTCATAGCGTTACTTGGCTG[A/C]AAGGAGGAGGAACTGGCAGCGGGGA

Phenotype

MIM: 611854 MIM: 603132

Polymorphism

A/C, Transversion 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	34	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	34	UTR 5			NP_001265160.1
NM_001278232.1	34	UTR 5			NP_001265161.1
NM_001278240.1	34	UTR 5			NP_001265169.1
NM_003452.3	34	UTR 5			NP_003443.2
NM_197977.2	34	UTR 5			NP_932094.1
XM_006717280.3	34	UTR 5			XP_006717343.1
XM_006717281.3	34	UTR 5			XP_006717344.1
XM_011518998.2	34	UTR 5			XP_011517300.1
XM_011518999.2	34	Intron			XP_011517301.1
XM_017015121.1	34	Intron			XP_016870610.1

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