Product Details

SNP ID

hCV2295217

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:30304595 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACATGACTTTATATCTTTGTACAG[A/C]GCATTTCCAGCATCATATCATCCAT

Phenotype

MIM: 300473

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

NR0B1 PubMed Links

Gene Details

Gene

NR0B1

Gene Name

nuclear receptor subfamily 0 group B member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000475.4	1412	Missense Mutation	CGC,CTC	R466L	NP_000466.2

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