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SNP ID

rs41402346

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:30308289 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGGAAAGAAAGCACTTGATGGCTT[A/G]GACCTGGGAGGCGGAGGGCACCTTC

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	1090	Nonsense Mutation	CAA,TAA	Q359*	NP_000466.2
XM_017029338.1	1090	Nonsense Mutation	CAA,TAA	Q359*	XP_016884827.1

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