Product Details

SNP ID
rs17849449
Assay Type
Functionally tested
NCBI dbSNP Submissions
13
Location
Chr.1:150266560 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGAGGCTGCGCTGAATACTTCGGA[G/T]GGACCCTCCAGCTGTGATGAAGGCC
Phenotype
MIM: 607629 MIM: 604832
Polymorphism
G/T, 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 1105 Missense Mutation ATC,CTC I236L NP_001071096.1
NM_001243771.1 1105 Missense Mutation ATC,CTC I179L NP_001230700.1
NM_001243772.1 1105 Missense Mutation ATC,CTC I166L NP_001230701.1
NM_016022.3 1105 Missense Mutation ATC,CTC I236L NP_057106.2
XM_017001417.1 1105 Missense Mutation ATC,CTC I179L XP_016856906.1
Gene
C1orf54
Gene Name
chromosome 1 open reading frame 54
There are no transcripts associated with this gene.

Gene
CA14
Gene Name
carbonic anhydrase 14
There are no transcripts associated with this gene.

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