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TGCTGCTTGCTGTGTTCAAGAAGGC[A/G]CTGCCCGCCCTCCCCATCTCCATCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
4 submissions
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Phenotype: |
MIM: 600759 | ||||||||||||||||||||
Literature Links: |
LOC105373120 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 |
LOC105373120 - uncharacterized LOC105373120 | ||||||
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There are no transcripts associated with this gene. |
PSEN2 - presenilin 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000447.2 | 1473 | Silent Mutation | GCA,GCG | A,A 412 | NP_000438.2 | |
NM_012486.2 | 1473 | Silent Mutation | GCA,GCG | A,A 411 | NP_036618.2 | |
XM_005273199.3 | 1473 | Silent Mutation | GCA,GCG | A,A 412 | XP_005273256.1 | |
XM_017001835.1 | 1473 | Silent Mutation | GCA,GCG | A,A 412 | XP_016857324.1 | |
XM_017001836.1 | 1473 | Silent Mutation | GCA,GCG | A,A 411 | XP_016857325.1 |