Product Details

SNP ID
rs11551487
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:101006005 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTGCGGCTGTCCAGAAAACGTAAT[G/T]AGGATGAAGATTCACCAAATAAGCT
Phenotype
MIM: 603347
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
NPAS2 PubMed Links

Gene Details

Gene
NPAS2
Gene Name
neuronal PAS domain protein 2
There are no transcripts associated with this gene.

Gene
RPL31
Gene Name
ribosomal protein L31
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000993.4 367 Intron NP_000984.1
NM_001098577.2 367 Nonsense Mutation GAG,TAG E94* NP_001092047.1
NM_001099693.1 367 Intron NP_001093163.1
Gene
TBC1D8
Gene Name
TBC1 domain family member 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
XM_005263862.3 367 Intron XP_005263919.1
XM_005263863.4 367 Intron XP_005263920.1
XM_005263864.3 367 Intron XP_005263921.1
XM_011510507.1 367 Intron XP_011508809.1
XM_011510508.2 367 Intron XP_011508810.1
XM_017003198.1 367 Intron XP_016858687.1
XM_017003199.1 367 Intron XP_016858688.1
XM_017003200.1 367 Intron XP_016858689.1
XM_017003201.1 367 Intron XP_016858690.1
XM_017003202.1 367 Intron XP_016858691.1

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