Product Details

SNP ID

rs104894894

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:30304809 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTCCCTGAATGTACTTCACGCACT[A/G]CAGGCCCGGCACGTCTGGAGGGAGA

Phenotype

MIM: 300473

Polymorphism

A/G, 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	1198	Nonsense Mutation	CAG,TAG	Q395*	NP_000466.2
XM_017029338.1	1198	Intron			XP_016884827.1

View Full Product Details