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AGACACTCGGGAGCTGACCAAGAAG[G/T]TGCGGGAACAGGGGTCTCTGCTGGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 114010 MIM: 604024 | ||||||||||||||||||||
Literature Links: |
ATRAID PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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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 |
ATRAID - all-trans retinoic acid induced differentiation factor | ||||||
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There are no transcripts associated with this gene. |
CAD - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001306079.1 | 544 | Missense Mutation | GTG,TTG | V,L 128 | NP_001293008.1 | |
NM_004341.4 | 544 | Missense Mutation | GTG,TTG | V,L 128 | NP_004332.2 | |
XM_005264555.3 | 544 | Missense Mutation | GTG,TTG | V,L 128 | XP_005264612.1 | |
XM_006712101.2 | 544 | Missense Mutation | GTG,TTG | V,L 128 | XP_006712164.1 |
SLC5A6 - solute carrier family 5 member 6 | ||||||
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There are no transcripts associated with this gene. |