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TCAGTGCATAATCCCACATCACCAC[A/C]ATCTTCAAAGAAAGCACCTCCACCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
4 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 |
---|---|---|
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 |
PRG4 - proteoglycan 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001127708.2 | 269 | Missense Mutation | CAA,CCA | Q,P 73 | NP_001121180.2 | |
NM_001127709.2 | 269 | Intron | NP_001121181.2 | |||
NM_001127710.2 | 269 | Intron | NP_001121182.2 | |||
NM_001303232.1 | 269 | Missense Mutation | CAA,CCA | Q,P 114 | NP_001290161.1 | |
NM_005807.4 | 269 | Missense Mutation | CAA,CCA | Q,P 114 | NP_005798.3 | |
XM_017000002.1 | 269 | Intron | XP_016855491.1 | |||
XM_017000003.1 | 269 | Intron | XP_016855492.1 |
TPR - translocated promoter region, nuclear basket protein | ||||||
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There are no transcripts associated with this gene. |