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GGAACCGGAGCTCACCCCTGCTTCC[C/T]CCCTCTCTGAGCAGCTCTGACAGCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601929 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ATP2A3 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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ATP2A3 - ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005173.3 | 3289 | Intron | NP_005164.2 | |||
NM_174953.2 | 3289 | Silent Mutation | GGA,GGG | G,G 1043 | NP_777613.1 | |
NM_174954.2 | 3289 | Missense Mutation | GAG,GGG | E,G 1039 | NP_777614.1 | |
NM_174955.2 | 3289 | Intron | NP_777615.1 | |||
NM_174956.2 | 3289 | Intron | NP_777616.1 | |||
NM_174957.2 | 3289 | Intron | NP_777617.1 | |||
NM_174958.2 | 3289 | Intron | NP_777618.1 | |||
XM_011523881.2 | 3289 | Intron | XP_011522183.1 | |||
XM_011523882.2 | 3289 | Missense Mutation | GAG,GGG | E,G 1039 | XP_011522184.1 | |
XM_011523884.2 | 3289 | Intron | XP_011522186.1 | |||
XM_011523885.1 | 3289 | Intron | XP_011522187.1 | |||
XM_011523888.2 | 3289 | Intron | XP_011522190.1 | |||
XM_011523889.1 | 3289 | Intron | XP_011522191.1 | |||
XM_011523892.2 | 3289 | Intron | XP_011522194.1 | |||
XM_017024692.1 | 3289 | Silent Mutation | GGA,GGG | G,G 1043 | XP_016880181.1 | |
XM_017024693.1 | 3289 | Intron | XP_016880182.1 |