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ATGCCCTCGATGACCACCAGATCCG[C/T]GCCACGCTCCCGCACCAGTGCGGCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 606162 MIM: 612836 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PANK4 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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PANK4 - pantothenate kinase 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_018216.2 | 2193 | Missense Mutation | ACG,GCG | T,A 726 | NP_060686.2 | |
XM_011541708.2 | 2193 | Intron | XP_011540010.2 | |||
XM_017001633.1 | 2193 | Missense Mutation | ACG,GCG | T,A 571 | XP_016857122.1 |
PLCH2 - phospholipase C eta 2 | ||||||
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There are no transcripts associated with this gene. |