Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AGAGCTGAGAGGCGCCGGGACGTGC[C/G]GGGGAAGTTGTGGACGTCCAGCCAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615620 MIM: 603215 MIM: 601901 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KPTN 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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KPTN - kaptin, actin binding protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001291296.1 | 567 | Missense Mutation | CGC,GGC | R,G 155 | NP_001278225.1 | |
NM_007059.3 | 567 | Missense Mutation | CGC,GGC | R,G 211 | NP_008990.2 | |
XM_011526399.2 | 567 | Missense Mutation | CGC,GGC | R,G 273 | XP_011524701.1 | |
XM_017026226.1 | 567 | Missense Mutation | CGC,GGC | R,G 295 | XP_016881715.1 | |
XM_017026227.1 | 567 | Missense Mutation | CGC,GGC | R,G 295 | XP_016881716.1 | |
XM_017026228.1 | 567 | Missense Mutation | CGC,GGC | R,G 295 | XP_016881717.1 | |
XM_017026229.1 | 567 | Intron | XP_016881718.1 |
NAPA - NSF attachment protein alpha | ||||||
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There are no transcripts associated with this gene. |
NAPA-AS1 - NAPA antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |
SLC8A2 - solute carrier family 8 member A2 | ||||||
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There are no transcripts associated with this gene. |