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AGCAGGGCCAGGGCCCAGGTGAAAC[A/G]GATGCGACAGCAGCGGAGAGAAGAG
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 | |||
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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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CLN3 - CLN3, battenin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000086.2 | 1199 | Missense Mutation | CGT,TGT | R,C 343 | NP_000077.1 | |
NM_001042432.1 | 1199 | Missense Mutation | CGT,TGT | R,C 343 | NP_001035897.1 | |
NM_001286104.1 | 1199 | Missense Mutation | CGT,TGT | R,C 319 | NP_001273033.1 | |
NM_001286105.1 | 1199 | Missense Mutation | CGT,TGT | R,C 243 | NP_001273034.1 | |
NM_001286109.1 | 1199 | Missense Mutation | CGT,TGT | R,C 265 | NP_001273038.1 | |
NM_001286110.1 | 1199 | Missense Mutation | CGT,TGT | R,C 289 | NP_001273039.1 |