Product Details

SNP ID
rs200355245
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:150283342 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGTCTTTTCCCACCTCCCCAGTGAA[A/C]AGTGACTTTGGCTTCCCCTCTGATA
Phenotype
MIM: 607629 MIM: 615782
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
APH1A PubMed Links

Gene Details

Gene
APH1A
Gene Name
aph-1 homolog A, gamma-secretase subunit
There are no transcripts associated with this gene.

Gene
C1orf54
Gene Name
chromosome 1 open reading frame 54
There are no transcripts associated with this gene.

Gene
CIART
Gene Name
circadian associated repressor of transcription
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001300838.1 152 Missense Mutation AAA,AAC K25N NP_001287767.1
NM_001300839.1 152 Intron NP_001287768.1
NM_001300840.1 152 Intron NP_001287769.1
NM_001300841.1 152 Intron NP_001287770.1
NM_144697.3 152 Missense Mutation AAA,AAC K25N NP_653298.1
XM_017000378.1 152 UTR 5 XP_016855867.1

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