Product Details

SNP ID
rs200948036
Assay Type
Functionally Tested
NCBI dbSNP Submissions
3
Location
Chr.1:54200425 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGGACTGGAGCCCATCACCTTTG[C/T]GGGGAAGATGCACTTCGTGCCCTGG
Phenotype
MIM: 611843
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
CYB5RL PubMed Links

Gene Details

Gene
CYB5RL
Gene Name
cytochrome b5 reductase like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001031672.2 259 Intron NP_001026842.2
Gene
MRPL37
Gene Name
mitochondrial ribosomal protein L37
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_016491.3 259 Missense Mutation GCG,GTG A61V NP_057575.2
XM_005270920.3 259 Missense Mutation GCG,GTG A61V XP_005270977.1

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