Product Details

SNP ID

rs201993183

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:52940203 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCATCAACATCGCCGACTTCCTGC[G/T]GCGGCAGTGGCCCTTCGGGGAGCTC

Phenotype

MIM: 600730

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

NPBWR1 PubMed Links

Gene Details

Gene

NPBWR1

Gene Name

neuropeptides B/W receptor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005285.3	296	Missense Mutation	CGG,CTG	R99L	NP_005276.2

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