Product Details

SNP ID

rs144753674

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:83857271 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTGGCCAAAATCAAAATGTTATG[A/T]TTACTTATATCAAGAAGCAGAAGCT

Phenotype

MIM: 608343 MIM: 609891

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

CYB5R4 PubMed Links

Gene Details

Gene

CYB5R4

Gene Name

cytochrome b5 reductase 4

There are no transcripts associated with this gene.

Gene

RIPPLY2

Gene Name

ripply transcriptional repressor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001009994.2	420	Missense Mutation	GAT,GTT	D90V	NP_001009994.1

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