Product Details

SNP ID

rs200221315

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:54200388 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCGGAGCCTCCTCCCCTGGATAGG[G/T]TGTACGAGATCCCTGGACTGGAGCC

Phenotype

MIM: 611843

Polymorphism

G/T, Transversion 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	222	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	222	Missense Mutation	GTG,TTG	V49L	NP_057575.2
XM_005270920.3	222	Missense Mutation	GTG,TTG	V49L	XP_005270977.1

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