Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTCACCTTCTCTCCACGCTCGCTCC[C/G]ATCACCTTTCTCTCCTCGGGGTCCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610043 MIM: 614683 | ||||||||||||||||||||
Literature Links: |
COL23A1 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 |
COL23A1 - collagen type XXIII alpha 1 chain | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_173465.3 | 2587 | Missense Mutation | CGG,GGG | R,G 492 | NP_775736.2 | |
XM_006714933.3 | 2587 | Missense Mutation | CGG,GGG | R,G 492 | XP_006714996.1 | |
XM_006714934.3 | 2587 | Missense Mutation | CGG,GGG | R,G 483 | XP_006714997.1 | |
XM_006714935.3 | 2587 | Missense Mutation | CGG,GGG | R,G 480 | XP_006714998.1 | |
XM_006714936.3 | 2587 | Missense Mutation | CGG,GGG | R,G 471 | XP_006714999.1 | |
XM_011534688.2 | 2587 | Missense Mutation | CGG,GGG | R,G 483 | XP_011532990.1 | |
XM_011534689.2 | 2587 | Missense Mutation | CGG,GGG | R,G 474 | XP_011532991.1 | |
XM_011534690.2 | 2587 | Missense Mutation | CGG,GGG | R,G 474 | XP_011532992.1 | |
XM_011534691.2 | 2587 | Missense Mutation | CGG,GGG | R,G 456 | XP_011532993.1 | |
XM_011534692.2 | 2587 | Missense Mutation | CGG,GGG | R,G 398 | XP_011532994.1 | |
XM_017010018.1 | 2587 | Intron | XP_016865507.1 |
PHYKPL - 5-phosphohydroxy-L-lysine phospho-lyase | ||||||
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There are no transcripts associated with this gene. |