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TCTGAATGCCAAGGGAATCAATGAT[G/T]AACAGAGTCTCCTGATCAATCTTCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603930 MIM: 600154 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GPHN 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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PIGH - phosphatidylinositol glycan anchor biosynthesis class H | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004569.3 | 372 | Missense Mutation | TTA,TTC | L,F 91 | NP_004560.1 | |
XM_011536838.2 | 372 | Missense Mutation | TTA,TTC | L,F 91 | XP_011535140.1 | |
XM_017021371.1 | 372 | Missense Mutation | TTA,TTC | L,F 91 | XP_016876860.1 | |
XM_017021372.1 | 372 | Missense Mutation | TTA,TTC | L,F 91 | XP_016876861.1 |
PLEKHH1 - pleckstrin homology, MyTH4 and FERM domain containing H1 | ||||||
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There are no transcripts associated with this gene. |