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CACCATCGAGCGAGAGTGCATGGAG[G/T]AGATCTGCAGCTACGAGGAGGTCAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300685 | ||||||||||||||||||||
Literature Links: |
PRRG3 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 |
PRRG3 - proline rich and Gla domain 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_024082.3 | 164 | Nonsense Mutation | GAG,TAG | E,* 39 | NP_076987.3 | |
XM_005274747.3 | 164 | Nonsense Mutation | GAG,TAG | E,* 39 | XP_005274804.1 | |
XM_011531197.2 | 164 | Nonsense Mutation | GAG,TAG | E,* 39 | XP_011529499.1 |