Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGCCAGCAGGGGACTGGAGAAGCTC[C/T]GCTGCCACAGCAGATGGAACCCGTG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615620 MIM: 601901 | ||||||||||||||||||||
Literature Links: |
KPTN 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 |
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 | 1015 | Missense Mutation | CAG,CGG | Q,R 304 | NP_001278225.1 | |
NM_007059.3 | 1015 | Missense Mutation | CAG,CGG | Q,R 360 | NP_008990.2 | |
XM_011526399.2 | 1015 | Missense Mutation | CAG,CGG | Q,R 422 | XP_011524701.1 | |
XM_017026226.1 | 1015 | Missense Mutation | CAG,CGG | Q,R 444 | XP_016881715.1 | |
XM_017026227.1 | 1015 | Missense Mutation | CAG,CGG | Q,R 444 | XP_016881716.1 | |
XM_017026228.1 | 1015 | Missense Mutation | CAG,CGG | Q,R 444 | XP_016881717.1 | |
XM_017026229.1 | 1015 | Intron | XP_016881718.1 |
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. |