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ATGGTCACAGCTGCCTGAAGCATGT[C/T]TTCTTCACTCATAGCATCACCTGTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607047 | ||||||||||||||||||||
Literature Links: |
ATXN3 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 |
ATXN3 - ataxin 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001127696.1 | 443 | Missense Mutation | NP_001121168.1 | |||
NM_001127697.2 | 443 | Missense Mutation | NP_001121169.2 | |||
NM_001164774.1 | 443 | UTR 3 | NP_001158246.1 | |||
NM_001164776.1 | 443 | UTR 3 | NP_001158248.1 | |||
NM_001164777.1 | 443 | UTR 3 | NP_001158249.1 | |||
NM_001164778.1 | 443 | UTR 3 | NP_001158250.1 | |||
NM_001164779.1 | 443 | Missense Mutation | NP_001158251.1 | |||
NM_001164780.1 | 443 | Missense Mutation | NP_001158252.1 | |||
NM_001164781.1 | 443 | Missense Mutation | NP_001158253.1 | |||
NM_001164782.1 | 443 | UTR 3 | NP_001158254.1 | |||
NM_004993.5 | 443 | Missense Mutation | NP_004984.2 | |||
NM_030660.4 | 443 | Missense Mutation | NP_109376.1 |