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CGCCCTTTATGTCTTCACCATCGCC[A/G]CCGAGCCGTTGCGTATCATCTTCCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 607630 MIM: 613532 | ||||||||||||||||||||
Literature Links: |
APH1B 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 |
APH1B - aph-1 homolog B, gamma-secretase subunit | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145646.1 | 184 | Missense Mutation | ACC,GCC | T,A 27 | NP_001139118.1 | |
NM_031301.3 | 184 | Missense Mutation | ACC,GCC | T,A 27 | NP_112591.2 | |
XM_011522105.2 | 184 | Missense Mutation | ACC,GCC | T,A 27 | XP_011520407.1 |
RAB8B - RAB8B, member RAS oncogene family | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |