Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AGAGTCATAATTACCTGAAAGTCTT[C/T]TCCCACGTTATTAAGTGCAATGTTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601865 | ||||||||||||||||||||
Literature Links: |
PLOD2 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 |
PLOD2 - procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000935.2 | 2173 | Missense Mutation | AAA,GAA | K,E 683 | NP_000926.2 | |
NM_182943.2 | 2173 | Missense Mutation | AAA,GAA | K,E 704 | NP_891988.1 | |
XM_005247535.3 | 2173 | Missense Mutation | AAA,GAA | K,E 612 | XP_005247592.1 | |
XM_017006625.1 | 2173 | Missense Mutation | AAA,GAA | K,E 612 | XP_016862114.1 |