Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCCATTGTGTATGCCAAGCCAGAGT[A/G]CACGATGTCTTTCTCAGATGCACCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 138130 | ||||||||||||||||||||
Literature Links: |
GLUD1 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 |
GLUD1 - glutamate dehydrogenase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318900.1 | 2150 | Missense Mutation | CAC,TAC | H,Y 374 | NP_001305829.1 | |
NM_001318901.1 | 2150 | Missense Mutation | CAC,TAC | H,Y 340 | NP_001305830.1 | |
NM_001318902.1 | 2150 | Missense Mutation | CAC,TAC | H,Y 340 | NP_001305831.1 | |
NM_001318904.1 | 2150 | Missense Mutation | CAC,TAC | H,Y 340 | NP_001305833.1 | |
NM_001318905.1 | 2150 | Missense Mutation | CAC,TAC | H,Y 340 | NP_001305834.1 | |
NM_001318906.1 | 2150 | Missense Mutation | CAC,TAC | H,Y 340 | NP_001305835.1 | |
NM_005271.4 | 2150 | Missense Mutation | CAC,TAC | H,Y 507 | NP_005262.1 |