Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AGGAGCCCATTCAGAAAATGAACAA[A/G]AAAGCAAAAGAAAATGACCCAGAAT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606397 | ||||||||||||||||||||
Literature Links: |
CLRN1 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 |
CLRN1 - clarin 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001195794.1 | 919 | Missense Mutation | CTT,TTT | L,F 210 | NP_001182723.1 | |
NM_001256819.1 | 919 | UTR 3 | NP_001243748.1 | |||
NM_052995.2 | 919 | Intron | NP_443721.1 | |||
NM_174878.2 | 919 | Missense Mutation | CTT,TTT | L,F 197 | NP_777367.1 |