Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTGGCCCCAGTTGTGTCTCCCGCCT[C/T]CGCCATTCTGATCAGCAGCTCGCCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608813 | ||||||||||||||||||||
Literature Links: |
DERL1 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 |
DERL1 - derlin 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001134671.2 | 808 | Missense Mutation | GAA,GGA | E,G 216 | NP_001128143.1 | |
NM_024295.5 | 808 | Missense Mutation | GAA,GGA | E,G 236 | NP_077271.1 | |
XM_006716657.1 | 808 | Missense Mutation | GAA,GGA | E,G 136 | XP_006716720.1 | |
XM_011517299.1 | 808 | Missense Mutation | GAA,GGA | E,G 136 | XP_011515601.1 |