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GTGTGGCGTCGAAACATACTGAGAG[C/G]AGAGCAATCCCAGGAATACCGATAT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 601837 | ||||||||||||||||||||
Literature Links: |
ABHD13 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 |
ABHD13 - abhydrolase domain containing 13 | ||||||
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There are no transcripts associated with this gene. |
LIG4 - DNA ligase 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001098268.1 | 3010 | Missense Mutation | CCT,GCT | P,A 809 | NP_001091738.1 | |
NM_002312.3 | 3010 | Missense Mutation | CCT,GCT | P,A 809 | NP_002303.2 | |
NM_206937.1 | 3010 | Missense Mutation | CCT,GCT | P,A 809 | NP_996820.1 | |
XM_005254056.1 | 3010 | Missense Mutation | CCT,GCT | P,A 809 | XP_005254113.1 | |
XM_005254057.4 | 3010 | Missense Mutation | CCT,GCT | P,A 809 | XP_005254114.1 | |
XM_005254058.3 | 3010 | Missense Mutation | CCT,GCT | P,A 809 | XP_005254115.1 | |
XM_006719951.3 | 3010 | Missense Mutation | CCT,GCT | P,A 809 | XP_006720014.1 | |
XM_006719952.1 | 3010 | Missense Mutation | CCT,GCT | P,A 809 | XP_006720015.1 | |
XM_011521091.2 | 3010 | Missense Mutation | CCT,GCT | P,A 809 | XP_011519393.1 | |
XM_011521092.2 | 3010 | Missense Mutation | CCT,GCT | P,A 809 | XP_011519394.1 | |
XM_017020563.1 | 3010 | Missense Mutation | CCT,GCT | P,A 821 | XP_016876052.1 | |
XM_017020564.1 | 3010 | Missense Mutation | CCT,GCT | P,A 821 | XP_016876053.1 | |
XM_017020565.1 | 3010 | Missense Mutation | CCT,GCT | P,A 821 | XP_016876054.1 | |
XM_017020566.1 | 3010 | Missense Mutation | CCT,GCT | P,A 821 | XP_016876055.1 | |
XM_017020567.1 | 3010 | Missense Mutation | CCT,GCT | P,A 821 | XP_016876056.1 | |
XM_017020568.1 | 3010 | Missense Mutation | CCT,GCT | P,A 813 | XP_016876057.1 | |
XM_017020569.1 | 3010 | Missense Mutation | CCT,GCT | P,A 809 | XP_016876058.1 | |
XM_017020570.1 | 3010 | Missense Mutation | CCT,GCT | P,A 809 | XP_016876059.1 | |
XM_017020571.1 | 3010 | Missense Mutation | CCT,GCT | P,A 809 | XP_016876060.1 | |
XM_017020572.1 | 3010 | Missense Mutation | CCT,GCT | P,A 742 | XP_016876061.1 | |
XM_017020573.1 | 3010 | Missense Mutation | CCT,GCT | P,A 742 | XP_016876062.1 |