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ATACCTTTTATACTCACCTTGTAAC[A/C]GTACCACAACAGGTATTTTAATTTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603921 | ||||||||||||||||||||
Literature Links: |
SUCLA2 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 |
SUCLA2 - succinate-CoA ligase ADP-forming beta subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003850.2 | 1497 | Missense Mutation | CGG,CTG | R,L 407 | NP_003841.1 | |
XM_017020806.1 | 1497 | Missense Mutation | CGG,CTG | R,L 349 | XP_016876295.1 | |
XM_017020807.1 | 1497 | Missense Mutation | CGG,CTG | R,L 328 | XP_016876296.1 | |
XM_017020808.1 | 1497 | Intron | XP_016876297.1 | |||
XM_017020809.1 | 1497 | Missense Mutation | CGG,CTG | R,L 273 | XP_016876298.1 |