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ACTTCTCCAATCCAGGCAACTTCGA[A/G]AGGCAAAGTGGAACCCCGCCGGGGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606097 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KIAA1468 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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KIAA1468 - KIAA1468 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_020854.3 | 676 | Silent Mutation | GAA,GAG | E,E 138 | NP_065905.2 | |
XM_005266730.2 | 676 | Silent Mutation | GAA,GAG | E,E 138 | XP_005266787.1 | |
XM_011526110.1 | 676 | Silent Mutation | GAA,GAG | E,E 138 | XP_011524412.1 | |
XM_011526111.1 | 676 | Silent Mutation | GAA,GAG | E,E 138 | XP_011524413.1 | |
XM_011526112.1 | 676 | Silent Mutation | GAA,GAG | E,E 138 | XP_011524414.1 | |
XM_011526114.1 | 676 | Silent Mutation | GAA,GAG | E,E 138 | XP_011524416.1 | |
XM_011526117.2 | 676 | Intron | XP_011524419.1 | |||
XM_017025882.1 | 676 | Silent Mutation | GAA,GAG | E,E 138 | XP_016881371.1 | |
XM_017025883.1 | 676 | Silent Mutation | GAA,GAG | E,E 138 | XP_016881372.1 |
PIGN - phosphatidylinositol glycan anchor biosynthesis class N | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_012327.5 | 676 | Intron | NP_036459.1 | |||
NM_176787.4 | 676 | Intron | NP_789744.1 | |||
XM_011525889.1 | 676 | Intron | XP_011524191.1 | |||
XM_011525890.1 | 676 | Intron | XP_011524192.1 | |||
XM_011525891.1 | 676 | Intron | XP_011524193.1 | |||
XM_011525892.1 | 676 | Intron | XP_011524194.1 | |||
XM_011525893.1 | 676 | Intron | XP_011524195.1 | |||
XM_011525894.1 | 676 | Intron | XP_011524196.1 | |||
XM_011525895.1 | 676 | Intron | XP_011524197.1 | |||
XM_011525896.1 | 676 | Intron | XP_011524198.1 | |||
XM_011525898.1 | 676 | Intron | XP_011524200.1 | |||
XM_017025685.1 | 676 | Intron | XP_016881174.1 | |||
XM_017025686.1 | 676 | Intron | XP_016881175.1 |