Product Details

SNP ID

rs104894886

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:30308257 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTCCTTGGTACTGATGTTCAGACT[C/T]CAGCATTTGGAAAGAAAGCACTTGA

Phenotype

MIM: 300473

Polymorphism

C/T, Transition 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	1122	Nonsense Mutation	TGA,TGG	*369W	NP_000466.2
XM_017029338.1	1122	Nonsense Mutation	TGA,TGG	*369W	XP_016884827.1

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