Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CGGAGAGAAGAGCGGGAGGCAAAGA[A/C]GCCAGCCTGGTACAGCATCTGGTAC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607042 | ||||||||||||||||||||
Literature Links: |
CLN3 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 |
CLN3 - CLN3, battenin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000086.2 | 1160 | Missense Mutation | NP_000077.1 | |||
NM_001042432.1 | 1160 | Missense Mutation | NP_001035897.1 | |||
NM_001286104.1 | 1160 | Missense Mutation | NP_001273033.1 | |||
NM_001286105.1 | 1160 | Missense Mutation | NP_001273034.1 | |||
NM_001286109.1 | 1160 | Missense Mutation | NP_001273038.1 | |||
NM_001286110.1 | 1160 | Missense Mutation | NP_001273039.1 |