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GGAAGAGATCATCTCAAATGGTTCT[C/G]CAGTGTCAGGCTGGAGATCTCCAGA
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 | |||
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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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AHNAK2 - AHNAK nucleoprotein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_138420.2 | 16832 | Missense Mutation | GCA,GGA | A,G 5571 | NP_612429.2 | |
XM_005267299.1 | 16832 | Missense Mutation | GCA,GGA | A,G 5471 | XP_005267356.1 |
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 | 16832 | Intron | NP_001295103.1 | |||
NM_138790.3 | 16832 | Intron | NP_620145.2 | |||
XM_011536411.2 | 16832 | Intron | XP_011534713.1 | |||
XM_017020965.1 | 16832 | Intron | XP_016876454.1 |