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AGCAACTACCAACATCTGCTACAAT[C/G]TACTGGATCGAAATGTCCATGAGAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605832 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ACSS2 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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ACSS2 - acyl-CoA synthetase short-chain family member 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001076552.2 | 393 | Missense Mutation | CTA,GTA | L,V 107 | NP_001070020.2 | |
NM_001242393.1 | 393 | Missense Mutation | CTA,GTA | L,V 12 | NP_001229322.1 | |
NM_018677.3 | 393 | Missense Mutation | CTA,GTA | L,V 107 | NP_061147.1 | |
XM_005260455.1 | 393 | Missense Mutation | CTA,GTA | L,V 107 | XP_005260512.1 | |
XM_005260456.1 | 393 | Missense Mutation | CTA,GTA | L,V 107 | XP_005260513.1 | |
XM_006723826.1 | 393 | Missense Mutation | CTA,GTA | L,V 12 | XP_006723889.1 | |
XM_011528905.1 | 393 | Missense Mutation | CTA,GTA | L,V 107 | XP_011527207.1 | |
XM_011528906.1 | 393 | Missense Mutation | CTA,GTA | L,V 107 | XP_011527208.1 | |
XM_011528907.1 | 393 | Missense Mutation | CTA,GTA | L,V 107 | XP_011527209.1 | |
XM_011528908.1 | 393 | Missense Mutation | CTA,GTA | L,V 107 | XP_011527210.1 | |
XM_011528909.2 | 393 | Missense Mutation | CTA,GTA | L,V 57 | XP_011527211.1 | |
XM_011528911.1 | 393 | Missense Mutation | CTA,GTA | L,V 57 | XP_011527213.1 | |
XM_011528912.2 | 393 | Missense Mutation | CTA,GTA | L,V 12 | XP_011527214.1 |