Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGGCTGCGGACACTTCATGTGCATG[A/C]AGCCTCCTGTTGGGGGCAGAAAACA
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 |
---|---|---|
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 |
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 | 1423 | Missense Mutation | TGC,TTC | C,F 431 | NP_004553.2 | |
NM_013987.2 | 1423 | Missense Mutation | TGC,TTC | C,F 403 | NP_054642.2 | |
NM_013988.2 | 1423 | Missense Mutation | TGC,TTC | C,F 282 | NP_054643.2 | |
XM_011535863.1 | 1423 | Missense Mutation | TGC,TTC | C,F 430 | XP_011534165.1 | |
XM_017010908.1 | 1423 | Missense Mutation | TGC,TTC | C,F 469 | XP_016866397.1 | |
XM_017010909.1 | 1423 | Missense Mutation | TGC,TTC | C,F 351 | XP_016866398.1 |