Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GATGACGGTGTTCTTTAAAACGCTT[C/T]GAAATCACTGGAAGAAAACTACAGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610345 | ||||||||||||||||||||
Literature Links: |
AGK 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 |
AGK - acylglycerol kinase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_018238.3 | 662 | Nonsense Mutation | CGA,TGA | R,* 9 | NP_060708.1 | |
XM_005250023.3 | 662 | Nonsense Mutation | CGA,TGA | R,* 9 | XP_005250080.1 | |
XM_011516397.2 | 662 | Nonsense Mutation | CGA,TGA | R,* 9 | XP_011514699.1 |