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ATAGAAAGATTAGAAGATGACCTGC[A/G]GATCAAGGAAAAAGAACTGACAGAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
2 submissions
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Phenotype: |
MIM: 613932 | ||||||||||||||||||||
Literature Links: |
FPGT-TNNI3K 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 |
FPGT-TNNI3K - FPGT-TNNI3K readthrough | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001112808.2 | 172 | Missense Mutation | CAG,CGG | Q,R 150 | NP_001106279.2 | |
NM_001199327.1 | 172 | Missense Mutation | CAG,CGG | Q,R 150 | NP_001186256.2 |
TNNI3K - TNNI3 interacting kinase | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015978.2 | 172 | Missense Mutation | CAG,CGG | Q,R 36 | NP_057062.1 |