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ACCTGTCATTGAATCCTAGATTACT[G/T]GGGAGGCTGTTGTCCCTGGGCAGGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 180990 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PRB4 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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PRB4 - proline rich protein BstNI subfamily 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001261399.2 | 776 | Missense Mutation | AAG,CAG | K,Q 178 | NP_001248328.1 | |
NM_002723.5 | 776 | Missense Mutation | AAG,CAG | K,Q 247 | NP_002714.2 |