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GCCCGGAGGAAGTCGTTGTAGGAGA[C/T]TTTTGAAGACAGCGTCTTATCGTAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
EFCAB6 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 |
EFCAB6 - EF-hand calcium binding domain 6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_022785.3 | 4738 | Missense Mutation | ATC,GTC | I,V 1490 | NP_073622.2 | |
NM_198856.2 | 4738 | Missense Mutation | ATC,GTC | I,V 1338 | NP_942153.1 | |
XM_005261704.2 | 4738 | Missense Mutation | ATC,GTC | I,V 1576 | XP_005261761.1 | |
XM_005261705.3 | 4738 | Missense Mutation | ATC,GTC | I,V 1470 | XP_005261762.1 | |
XM_011530316.1 | 4738 | Missense Mutation | ATC,GTC | I,V 1602 | XP_011528618.1 | |
XM_011530317.2 | 4738 | Missense Mutation | ATC,GTC | I,V 1576 | XP_011528619.1 | |
XM_011530318.2 | 4738 | Missense Mutation | ATC,GTC | I,V 1550 | XP_011528620.1 | |
XM_011530319.2 | 4738 | Missense Mutation | ATC,GTC | I,V 1470 | XP_011528621.1 | |
XM_011530320.2 | 4738 | UTR 3 | XP_011528622.1 | |||
XM_011530321.2 | 4738 | Missense Mutation | ATC,GTC | I,V 1424 | XP_011528623.1 | |
XM_011530322.2 | 4738 | Missense Mutation | ATC,GTC | I,V 1424 | XP_011528624.1 | |
XM_011530323.2 | 4738 | Missense Mutation | ATC,GTC | I,V 1422 | XP_011528625.1 | |
XM_011530325.2 | 4738 | Missense Mutation | ATC,GTC | I,V 1328 | XP_011528627.1 | |
XM_011530326.2 | 4738 | Intron | XP_011528628.1 | |||
XM_011530327.2 | 4738 | Missense Mutation | ATC,GTC | I,V 1268 | XP_011528629.1 | |
XM_011530328.2 | 4738 | Intron | XP_011528630.1 | |||
XM_011530329.1 | 4738 | Missense Mutation | ATC,GTC | I,V 874 | XP_011528631.1 | |
XM_011530330.2 | 4738 | Intron | XP_011528632.1 | |||
XM_017028910.1 | 4738 | Missense Mutation | ATC,GTC | I,V 1602 | XP_016884399.1 | |
XM_017028911.1 | 4738 | Missense Mutation | ATC,GTC | I,V 1516 | XP_016884400.1 | |
XM_017028912.1 | 4738 | Missense Mutation | ATC,GTC | I,V 1418 | XP_016884401.1 |
EFCAB6-AS1 - EFCAB6 antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |