Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
16 submissions
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Phenotype: |
MIM: 604283 MIM: 189940 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PRG4 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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PRG4 - proteoglycan 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001127708.2 | 3587 | Missense Mutation | ACT,ATT | T,I 1231 | NP_001121180.2 | |
NM_001127709.2 | 3587 | Missense Mutation | ACT,ATT | T,I 1179 | NP_001121181.2 | |
NM_001127710.2 | 3587 | Missense Mutation | ACT,ATT | T,I 1138 | NP_001121182.2 | |
NM_001303232.1 | 3587 | Missense Mutation | ACT,ATT | T,I 1229 | NP_001290161.1 | |
NM_005807.4 | 3587 | Missense Mutation | ACT,ATT | T,I 1272 | NP_005798.3 | |
XM_017000002.1 | 3587 | Missense Mutation | ACT,ATT | T,I 1179 | XP_016855491.1 | |
XM_017000003.1 | 3587 | Missense Mutation | ACT,ATT | T,I 1138 | XP_016855492.1 |
TPR - translocated promoter region, nuclear basket protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003292.2 | 3587 | UTR 3 | NP_003283.2 |