Product Details

SNP ID
rs116854758
Assay Type
Functionally tested
NCBI dbSNP Submissions
24
Location
Chr.1:150284644 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTACAGGTAGAAGGGATGTTAAAGA[C/T]TTGGTTTCCACAAATAGCTGCCCAG
Phenotype
MIM: 607629 MIM: 615782 MIM: 611984
Polymorphism
C/T, Transition 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_001300838.1 570 Missense Mutation ACT,ATT T190I NP_001287767.1
NM_001300839.1 570 Missense Mutation ACT,ATT T102I NP_001287768.1
NM_001300840.1 570 Missense Mutation ACT,ATT T102I NP_001287769.1
NM_001300841.1 570 Missense Mutation ACT,ATT T102I NP_001287770.1
NM_144697.3 570 Missense Mutation ACT,ATT T190I NP_653298.1
XM_017000378.1 570 Missense Mutation ACT,ATT T33I XP_016855867.1
Gene
MRPS21
Gene Name
mitochondrial ribosomal protein S21
There are no transcripts associated with this gene.

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