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TGAGCAGCTGTGTTGGTCAGCAGCA[C/G]AGGAGCGTCCTCCTGGGCACAGCTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610561 MIM: 608547 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PRSS53 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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PRSS53 - protease, serine 53 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001039503.2 | 1992 | Missense Mutation | CTG,GTG | L,V 256 | NP_001034592.1 | |
XM_011545816.1 | 1992 | Missense Mutation | CTG,GTG | L,V 303 | XP_011544118.1 | |
XM_011545817.1 | 1992 | Missense Mutation | CTG,GTG | L,V 303 | XP_011544119.1 | |
XM_011545818.2 | 1992 | Missense Mutation | CTG,GTG | L,V 303 | XP_011544120.1 | |
XM_011545819.1 | 1992 | Missense Mutation | CTG,GTG | L,V 256 | XP_011544121.1 | |
XM_011545820.1 | 1992 | Missense Mutation | CTG,GTG | L,V 256 | XP_011544122.1 |
VKORC1 - vitamin K epoxide reductase complex subunit 1 | ||||||
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There are no transcripts associated with this gene. |
ZNF646 - zinc finger protein 646 | ||||||
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There are no transcripts associated with this gene. |