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CTTCAATGAAGGAGGAGCAGCCCAG[C/G]TGCAGTTTGATATGACTCGGAATCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610089 | ||||||||||||||||||||
Literature Links: |
EFCAB10 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 |
EFCAB10 - EF-hand calcium binding domain 10 | ||||||
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There are no transcripts associated with this gene. |
RINT1 - RAD50 interactor 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_021930.4 | 1523 | Missense Mutation | CTG,GTG | L,V 704 | NP_068749.3 | |
XM_005250524.3 | 1523 | Missense Mutation | CTG,GTG | L,V 363 | XP_005250581.1 | |
XM_011516458.2 | 1523 | Missense Mutation | CTG,GTG | L,V 363 | XP_011514760.1 | |
XM_017012496.1 | 1523 | Missense Mutation | CTG,GTG | L,V 626 | XP_016867985.1 | |
XM_017012497.1 | 1523 | Missense Mutation | CTG,GTG | L,V 363 | XP_016867986.1 | |
XM_017012498.1 | 1523 | Missense Mutation | CTG,GTG | L,V 363 | XP_016867987.1 |