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Search Thermo Fisher Scientific
CACTCGCTGTAGGAATCCACGAGCC[A/G]GGGTCTTTCTGAGACAGAGAGAGGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
1 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 |
---|---|---|
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 |
PANK4 - pantothenate kinase 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_018216.2 | 1833 | Missense Mutation | CGG,TGG | R,W 606 | NP_060686.2 | |
XM_011541708.2 | 1833 | Intron | XP_011540010.2 | |||
XM_017001633.1 | 1833 | Missense Mutation | CGG,TGG | R,W 451 | XP_016857122.1 |
PLCH2 - phospholipase C eta 2 | ||||||
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There are no transcripts associated with this gene. |