Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CGCTGGGGCTCATGGGCTTGTTGAT[A/G]TGGCTTTCTGGTGTGCCAGGATCTC
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 |
---|---|---|
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 |
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 | 769 | Missense Mutation | ACA,ATA | T,I 184 | NP_004560.1 | |
XM_011536838.2 | 769 | UTR 3 | XP_011535140.1 | |||
XM_017021371.1 | 769 | UTR 3 | XP_016876860.1 | |||
XM_017021372.1 | 769 | Missense Mutation | ACA,ATA | T,I 183 | XP_016876861.1 |
PLEKHH1 - pleckstrin homology, MyTH4 and FERM domain containing H1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_020715.2 | 769 | Intron | NP_065766.1 | |||
XM_011537009.1 | 769 | Intron | XP_011535311.1 | |||
XM_011537015.2 | 769 | Intron | XP_011535317.1 | |||
XM_017021499.1 | 769 | Intron | XP_016876988.1 | |||
XM_017021500.1 | 769 | Intron | XP_016876989.1 | |||
XM_017021501.1 | 769 | Intron | XP_016876990.1 | |||
XM_017021502.1 | 769 | Intron | XP_016876991.1 | |||
XM_017021503.1 | 769 | Intron | XP_016876992.1 | |||
XM_017021504.1 | 769 | Intron | XP_016876993.1 |