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AACACCCAGGAGAAGAGCGCCAGGC[A/G]CCGCGGGGGTGAGTGAGGGGACACT
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 | |||
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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
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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 | 471 | Missense Mutation | CAC,CGC | H,R 52 | NP_004846.4 | |
XM_005254795.4 | 471 | UTR 5 | XP_005254852.1 | |||
XM_011522235.2 | 471 | Missense Mutation | CAC,CGC | H,R 52 | XP_011520537.1 | |
XM_011522236.2 | 471 | Missense Mutation | CAC,CGC | H,R 52 | XP_011520538.1 | |
XM_011522237.2 | 471 | UTR 5 | XP_011520539.1 | |||
XM_017022730.1 | 471 | Intron | XP_016878219.1 | |||
XM_017022731.1 | 471 | Intron | XP_016878220.1 | |||
XM_017022732.1 | 471 | UTR 5 | XP_016878221.1 |
PIGBOS1 - PIGB opposite strand 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001308421.1 | 471 | Intron | NP_001295350.1 | |||
NM_001308422.1 | 471 | Intron | NP_001295351.1 | |||
NM_001308423.1 | 471 | Intron | NP_001295352.1 |