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CAGGTGACCTTTTCCTGGAAACAGA[C/T]ATTCTGGACATCTACCAGGGGCTCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 180440 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
RNASE1 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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RNASE1 - ribonuclease A family member 1, pancreatic | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002933.4 | 430 | Missense Mutation | ATC,GTC | I,V 85 | NP_002924.1 | |
NM_198232.2 | 430 | Missense Mutation | ATC,GTC | I,V 85 | NP_937875.1 | |
NM_198234.2 | 430 | Missense Mutation | ATC,GTC | I,V 85 | NP_937877.1 | |
NM_198235.2 | 430 | Missense Mutation | ATC,GTC | I,V 85 | NP_937878.1 |