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ATAGCATCACACATACCTGATGCGA[C/T]GACCGGATCTTTCATAAGTTCTCTA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
WDSUB1 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 |
WDSUB1 - WD repeat, sterile alpha motif and U-box domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001128212.2 | 1229 | Missense Mutation | ATC,GTC | I,V 422 | NP_001121684.1 | |
NM_001128213.1 | 1229 | Missense Mutation | ATC,GTC | I,V 422 | NP_001121685.1 | |
NM_001307994.1 | 1229 | Missense Mutation | ATC,GTC | I,V 330 | NP_001294923.1 | |
NM_152528.2 | 1229 | Missense Mutation | ATC,GTC | I,V 422 | NP_689741.2 | |
XM_005246355.2 | 1229 | Intron | XP_005246412.2 | |||
XM_006712341.3 | 1229 | Missense Mutation | ATC,GTC | I,V 253 | XP_006712404.1 | |
XM_011510753.2 | 1229 | Missense Mutation | ATC,GTC | I,V 422 | XP_011509055.1 | |
XM_011510754.2 | 1229 | Missense Mutation | ATC,GTC | I,V 335 | XP_011509056.1 | |
XM_017003481.1 | 1229 | Missense Mutation | ATC,GTC | I,V 422 | XP_016858970.1 | |
XM_017003482.1 | 1229 | Missense Mutation | ATC,GTC | I,V 299 | XP_016858971.1 | |
XM_017003483.1 | 1229 | Missense Mutation | ATC,GTC | I,V 184 | XP_016858972.1 |