Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCCTCCAGTAGAAGAGTCTCTTCTC[C/T]CACAGCCAGTTCATAGTCTGCAAAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
EFCAB1 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 |
EFCAB1 - EF-hand calcium binding domain 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142857.1 | 527 | Missense Mutation | AGA,GGA | R,G 123 | NP_001136329.1 | |
NM_024593.3 | 527 | Missense Mutation | AGA,GGA | R,G 175 | NP_078869.1 | |
XM_005251303.1 | 527 | Missense Mutation | AGA,GGA | R,G 175 | XP_005251360.1 | |
XM_011517589.1 | 527 | Missense Mutation | AGA,GGA | R,G 175 | XP_011515891.1 | |
XM_011517590.2 | 527 | Missense Mutation | AGA,GGA | R,G 113 | XP_011515892.1 | |
XM_011517591.2 | 527 | Missense Mutation | AGA,GGA | R,G 113 | XP_011515893.1 | |
XM_017013826.1 | 527 | Missense Mutation | AGA,GGA | R,G 123 | XP_016869315.1 | |
XM_017013827.1 | 527 | Missense Mutation | AGA,GGA | R,G 113 | XP_016869316.1 | |
XM_017013828.1 | 527 | Intron | XP_016869317.1 |