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Search Thermo Fisher Scientific
GCGTCCACGTGGCTTCATACTACTG[A/G]TCCCTCACAGGGCCTGACATCGGGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608570 | ||||||||||||||||||||
Literature Links: |
AHNAK2 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 |
AHNAK2 - AHNAK nucleoprotein 2 | ||||||
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There are no transcripts associated with this gene. |
PLD4 - phospholipase D family member 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001308174.1 | 595 | Nonsense Mutation | TGA,TGG | *,W 147 | NP_001295103.1 | |
NM_138790.3 | 595 | Nonsense Mutation | TGA,TGG | *,W 140 | NP_620145.2 | |
XM_011536411.2 | 595 | Nonsense Mutation | TGA,TGG | *,W 147 | XP_011534713.1 | |
XM_017020965.1 | 595 | Nonsense Mutation | TGA,TGG | *,W 140 | XP_016876454.1 |