Product Details

SNP ID
rs146818939
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:47021654 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGAGAAGTCCCGGAACGCGGCGCG[C/T]TCGCGGCGCGGGAAGGAGAACCTGG
Phenotype
MIM: 603346
Polymorphism
C/T, 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_001321086.1 385 Intron NP_001308015.1
NM_002517.3 385 Silent Mutation CGC,CGT R55R NP_002508.2
XM_006723231.2 385 Silent Mutation CGC,CGT R55R XP_006723294.1
XM_011526997.1 385 Silent Mutation CGC,CGT R55R XP_011525299.1
XM_011526999.1 385 Silent Mutation CGC,CGT R55R XP_011525301.1
XM_011527001.1 385 Silent Mutation CGC,CGT R55R XP_011525303.1
XM_011527002.1 385 Silent Mutation CGC,CGT R55R XP_011525304.1
XM_011527006.1 385 Silent Mutation CGC,CGT R55R XP_011525308.1
XM_011527007.1 385 Silent Mutation CGC,CGT R55R XP_011525309.1
XM_017026841.1 385 Silent Mutation CGC,CGT R55R XP_016882330.1
XM_017026842.1 385 Silent Mutation CGC,CGT R55R XP_016882331.1
XM_017026843.1 385 Silent Mutation CGC,CGT R55R XP_016882332.1
XM_017026844.1 385 Intron XP_016882333.1

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