Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TGTTTGTGTGCTTGTCCACCTTGGG[A/G]TGTTTAGACAGTGAATGGTGATGAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
11 submissions
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 610025 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
COL24A1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
COL24A1 - collagen type XXIV alpha 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_152890.5 | 5232 | Missense Mutation | ACC,ATC | T,I 1625 | NP_690850.2 | |
XM_017000924.1 | 5232 | Missense Mutation | ACC,ATC | T,I 1640 | XP_016856413.1 | |
XM_017000925.1 | 5232 | Missense Mutation | ACC,ATC | T,I 1640 | XP_016856414.1 | |
XM_017000926.1 | 5232 | Missense Mutation | ACC,ATC | T,I 1627 | XP_016856415.1 | |
XM_017000927.1 | 5232 | Missense Mutation | ACC,ATC | T,I 1622 | XP_016856416.1 | |
XM_017000928.1 | 5232 | Missense Mutation | ACC,ATC | T,I 883 | XP_016856417.1 | |
XM_017000929.1 | 5232 | Missense Mutation | ACC,ATC | T,I 868 | XP_016856418.1 | |
XM_017000930.1 | 5232 | Intron | XP_016856419.1 |