Product Details

SNP ID
rs202039324
Assay Type
Functionally Tested
NCBI dbSNP Submissions
4
Location
Chr.1:150279699 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCGAAGTCCTATTCCCCTCCTCCT[C/G]TCGTGTGCCTTTGTTCAGGTGGGGA
Phenotype
MIM: 607629 MIM: 615782
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
APH1A PubMed Links

Gene Details

Gene
APH1A
Gene Name
aph-1 homolog A, gamma-secretase subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001077628.2 509 Intron NP_001071096.1
NM_001243771.1 509 Intron NP_001230700.1
NM_001243772.1 509 Intron NP_001230701.1
NM_016022.3 509 Intron NP_057106.2
XM_017001417.1 509 Intron XP_016856906.1
Gene
C1orf54
Gene Name
chromosome 1 open reading frame 54
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001301039.1 509 Silent Mutation CTC,CTG L120L NP_001287968.1
NM_001301040.1 509 Silent Mutation CTC,CTG L119L NP_001287969.1
NM_001301041.1 509 Silent Mutation CTC,CTG L92L NP_001287970.1
NM_001301042.1 509 Intron NP_001287971.1
NM_024579.3 509 Silent Mutation CTC,CTG L119L NP_078855.2
XM_011509984.2 509 Silent Mutation CTC,CTG L92L XP_011508286.1
Gene
CIART
Gene Name
circadian associated repressor of transcription
There are no transcripts associated with this gene.

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