Search Thermo Fisher Scientific
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GTCGCCCATCGATATTCAGACAGAC[A/G]GTGTGACATTTGACCCTGATTTGCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
1 submissions
|
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Phenotype: |
MIM: 607629 MIM: 604832 | ||||||||||||||||||||
Literature Links: |
APH1A PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
APH1A - aph-1 homolog A, gamma-secretase subunit | ||||||
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There are no transcripts associated with this gene. |
CA14 - carbonic anhydrase 14 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_012113.2 | 475 | Missense Mutation | AGT,GGT | S,G 54 | NP_036245.1 | |
XM_005245059.2 | 475 | Missense Mutation | AGT,GGT | S,G 54 | XP_005245116.1 | |
XM_005245060.2 | 475 | Missense Mutation | AGT,GGT | S,G 54 | XP_005245117.1 | |
XM_006711259.2 | 475 | Missense Mutation | AGT,GGT | S,G 54 | XP_006711322.1 | |
XM_006711261.2 | 475 | Intron | XP_006711324.1 | |||
XM_011509379.2 | 475 | Intron | XP_011507681.1 | |||
XM_017000893.1 | 475 | Intron | XP_016856382.1 | |||
XM_017000894.1 | 475 | Missense Mutation | AGT,GGT | S,G 54 | XP_016856383.1 | |
XM_017000895.1 | 475 | Missense Mutation | AGT,GGT | S,G 54 | XP_016856384.1 | |
XM_017000896.1 | 475 | Intron | XP_016856385.1 |