Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ATTCTCTGGCCTCTGTTCATTCACA[C/T]GAGCAAGGGCACCTGCAGGGAAGAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610317 | ||||||||||||||||||||
Literature Links: |
COBL 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 |
COBL - cordon-bleu WH2 repeat protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001287436.1 | 4002 | Missense Mutation | ATG,GTG | M,V 1271 | NP_001274365.1 | |
NM_001287438.1 | 4002 | Intron | NP_001274367.1 | |||
NM_015198.3 | 4002 | Missense Mutation | ATG,GTG | M,V 1261 | NP_056013.2 | |
XM_005271750.1 | 4002 | Missense Mutation | ATG,GTG | M,V 1333 | XP_005271807.1 | |
XM_005271751.1 | 4002 | Missense Mutation | ATG,GTG | M,V 1318 | XP_005271808.1 | |
XM_005271756.1 | 4002 | Missense Mutation | ATG,GTG | M,V 1214 | XP_005271813.1 | |
XM_011515234.1 | 4002 | Missense Mutation | ATG,GTG | M,V 1358 | XP_011513536.1 | |
XM_011515235.1 | 4002 | Missense Mutation | ATG,GTG | M,V 1343 | XP_011513537.1 | |
XM_011515236.1 | 4002 | Missense Mutation | ATG,GTG | M,V 1311 | XP_011513538.1 | |
XM_011515237.1 | 4002 | Missense Mutation | ATG,GTG | M,V 1301 | XP_011513539.1 | |
XM_011515238.1 | 4002 | Missense Mutation | ATG,GTG | M,V 1270 | XP_011513540.1 | |
XM_011515239.1 | 4002 | Missense Mutation | ATG,GTG | M,V 1254 | XP_011513541.1 | |
XM_011515240.1 | 4002 | Missense Mutation | ATG,GTG | M,V 1239 | XP_011513542.1 | |
XM_011515241.1 | 4002 | Missense Mutation | ATG,GTG | M,V 1047 | XP_011513543.1 | |
XM_017011898.1 | 4002 | Missense Mutation | ATG,GTG | M,V 1276 | XP_016867387.1 | |
XM_017011899.1 | 4002 | Missense Mutation | ATG,GTG | M,V 1230 | XP_016867388.1 | |
XM_017011900.1 | 4002 | Missense Mutation | ATG,GTG | M,V 1173 | XP_016867389.1 | |
XM_017011901.1 | 4002 | Intron | XP_016867390.1 |