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GATCTTATTCTACATCATTTTTTAC[C/G]TGTAGGGTAAGTGTGGCAATAATCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604122 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PIGB PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
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
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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PIGB - phosphatidylinositol glycan anchor biosynthesis class B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004855.4 | 652 | Missense Mutation | CCT,CGT | P,R 263 | NP_004846.4 | |
XM_005254795.4 | 652 | Missense Mutation | CCT,CGT | P,R 102 | XP_005254852.1 | |
XM_011522235.2 | 652 | Missense Mutation | CCT,CGT | P,R 263 | XP_011520537.1 | |
XM_011522236.2 | 652 | Missense Mutation | CCT,CGT | P,R 228 | XP_011520538.1 | |
XM_011522237.2 | 652 | Missense Mutation | CCT,CGT | P,R 130 | XP_011520539.1 | |
XM_017022730.1 | 652 | Missense Mutation | CCT,CGT | P,R 130 | XP_016878219.1 | |
XM_017022731.1 | 652 | Missense Mutation | CCT,CGT | P,R 130 | XP_016878220.1 | |
XM_017022732.1 | 652 | Missense Mutation | CCT,CGT | P,R 102 | XP_016878221.1 |