Product Details
- SNP ID
-
rs146682127
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.19:47032286 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCTTCCATCTGCCCCAGCCCCAGGC[C/T]GCCGCGGCCCCGCAGCGCTGGTCTC
- 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 |
587 |
Intron |
|
|
NP_001308015.1 |
NM_002517.3 |
587 |
Missense Mutation |
CGC,TGC |
R123C |
NP_002508.2 |
XM_006723231.2 |
587 |
Missense Mutation |
CGC,TGC |
R123C |
XP_006723294.1 |
XM_011526997.1 |
587 |
Missense Mutation |
CGC,TGC |
R123C |
XP_011525299.1 |
XM_011526999.1 |
587 |
Missense Mutation |
CGC,TGC |
R123C |
XP_011525301.1 |
XM_011527001.1 |
587 |
Missense Mutation |
CGC,TGC |
R123C |
XP_011525303.1 |
XM_011527002.1 |
587 |
Missense Mutation |
CGC,TGC |
R123C |
XP_011525304.1 |
XM_011527006.1 |
587 |
Missense Mutation |
CGC,TGC |
R123C |
XP_011525308.1 |
XM_011527007.1 |
587 |
Missense Mutation |
CGC,TGC |
R123C |
XP_011525309.1 |
XM_017026841.1 |
587 |
Missense Mutation |
CGC,TGC |
R123C |
XP_016882330.1 |
XM_017026842.1 |
587 |
Missense Mutation |
CGC,TGC |
R123C |
XP_016882331.1 |
XM_017026843.1 |
587 |
Missense Mutation |
CGC,TGC |
R123C |
XP_016882332.1 |
XM_017026844.1 |
587 |
Missense Mutation |
CCG,CTG |
P83L |
XP_016882333.1 |
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