Product Details

SNP ID
rs74126632
Assay Type
Functionally tested
NCBI dbSNP Submissions
11
Location
Chr.1:150262483 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCTAGGATCAAGGCCTTGAAGGGG[A/G]TGCAGACATTCCATGATTCAATTCC
Phenotype
MIM: 607629 MIM: 604832
Polymorphism
A/G, 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
CA14
Gene Name
carbonic anhydrase 14
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_012113.2 Intron NP_036245.1
XM_005245059.2 Intron XP_005245116.1
XM_005245060.2 Intron XP_005245117.1
XM_006711259.2 Intron XP_006711322.1
XM_006711261.2 Intron XP_006711324.1
XM_011509379.2 Intron XP_011507681.1
XM_017000893.1 Intron XP_016856382.1
XM_017000894.1 Intron XP_016856383.1
XM_017000895.1 Intron XP_016856384.1
XM_017000896.1 Intron XP_016856385.1

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