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CCACTCGAGCCTGCACTGGGGCTGC[A/G]GACACTTCATGTGCATGCAGCCTCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602544 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PARK2 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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PARK2 - parkin RBR E3 ubiquitin protein ligase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004562.2 | 1441 | Missense Mutation | CCG,CTG | P,L 437 | NP_004553.2 | |
NM_013987.2 | 1441 | Missense Mutation | CCG,CTG | P,L 409 | NP_054642.2 | |
NM_013988.2 | 1441 | Missense Mutation | CCG,CTG | P,L 288 | NP_054643.2 | |
XM_011535863.1 | 1441 | Missense Mutation | CCG,CTG | P,L 436 | XP_011534165.1 | |
XM_017010908.1 | 1441 | Missense Mutation | CCG,CTG | P,L 475 | XP_016866397.1 | |
XM_017010909.1 | 1441 | Missense Mutation | CCG,CTG | P,L 357 | XP_016866398.1 |