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TTGTTGTTGTTGTTGTTAAACACAG[A/G]CCAACTACGGTTGAAAACGTAAAAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604611 | ||||||||||||||||||||
Literature Links: |
WRN 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 |
WRN - Werner syndrome RecQ like helicase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000553.4 | 4361 | Silent Mutation | AGA,AGG | R,R 1191 | NP_000544.2 | |
XM_011544639.2 | 4361 | Silent Mutation | AGA,AGG | R,R 1164 | XP_011542941.1 | |
XM_011544640.1 | 4361 | Silent Mutation | AGA,AGG | R,R 658 | XP_011542942.1 |