Product Details

SNP ID

rs138366096

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:47032290 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCATCTGCCCCAGCCCCAGGCCGCC[A/G]CGGCCCCGCAGCGCTGGTCTCCGAA

Phenotype

MIM: 603346

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NPAS1 PubMed Links

Gene Details

Gene

NPAS1

Gene Name

neuronal PAS domain protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321086.1	591	Intron			NP_001308015.1
NM_002517.3	591	Missense Mutation	CAC,CGC	H124R	NP_002508.2
XM_006723231.2	591	Missense Mutation	CAC,CGC	H124R	XP_006723294.1
XM_011526997.1	591	Missense Mutation	CAC,CGC	H124R	XP_011525299.1
XM_011526999.1	591	Missense Mutation	CAC,CGC	H124R	XP_011525301.1
XM_011527001.1	591	Missense Mutation	CAC,CGC	H124R	XP_011525303.1
XM_011527002.1	591	Missense Mutation	CAC,CGC	H124R	XP_011525304.1
XM_011527006.1	591	Missense Mutation	CAC,CGC	H124R	XP_011525308.1
XM_011527007.1	591	Missense Mutation	CAC,CGC	H124R	XP_011525309.1
XM_017026841.1	591	Missense Mutation	CAC,CGC	H124R	XP_016882330.1
XM_017026842.1	591	Missense Mutation	CAC,CGC	H124R	XP_016882331.1
XM_017026843.1	591	Missense Mutation	CAC,CGC	H124R	XP_016882332.1
XM_017026844.1	591	Silent Mutation	CCA,CCG	P84P	XP_016882333.1

View Full Product Details