Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613111 MIM: 608597 MIM: 172425 | ||||||||||||||||||||
Literature Links: |
CTSA PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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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 |
CTSA - cathepsin A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000308.3 | 1382 | Missense Mutation | CAG,CGG | Q,R 67 | NP_000299.2 | |
NM_001127695.2 | 1382 | Missense Mutation | CAG,CGG | Q,R 49 | NP_001121167.1 | |
NM_001167594.2 | 1382 | Missense Mutation | CAG,CGG | Q,R 67 | NP_001161066.1 |
NEURL2 - neuralized E3 ubiquitin protein ligase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001278535.1 | 1382 | Intron | NP_001265464.1 | |||
NM_080749.3 | 1382 | Intron | NP_542787.1 |
PLTP - phospholipid transfer protein | ||||||
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There are no transcripts associated with this gene. |
SPATA25 - spermatogenesis associated 25 | ||||||
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There are no transcripts associated with this gene. |
ZSWIM1 - zinc finger SWIM-type containing 1 | ||||||
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There are no transcripts associated with this gene. |