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TAAGAAGATGGAGTAGATATCAGAT[A/G]AAACAATTCACGTTTAATATGTAAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608102 MIM: 605653 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CLN5 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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CLN5 - ceroid-lipofuscinosis, neuronal 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006493.2 | 2384 | UTR 3 | NP_006484.1 | |||
XM_011534917.2 | 2384 | UTR 3 | XP_011533219.1 |
FBXL3 - F-box and leucine rich repeat protein 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_012158.2 | 2384 | Intron | NP_036290.1 | |||
XM_005266336.1 | 2384 | Intron | XP_005266393.1 | |||
XM_005266337.2 | 2384 | Intron | XP_005266394.1 | |||
XM_017020538.1 | 2384 | Intron | XP_016876027.1 |