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GGAAGGGGTGCTGCAGGAGATGGGT[C/T]TGCAGAGGACGCTGGTGCAGGAAGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612920 | ||||||||||||||||||||
Literature Links: |
KRTAP12-1 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 |
KRTAP12-1 - keratin associated protein 12-1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_181686.1 | 297 | Missense Mutation | AAA,AGA | K,R 86 | NP_859014.1 |
TSPEAR - thrombospondin type laminin G domain and EAR repeats | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001272037.1 | 297 | Intron | NP_001258966.1 | |||
NM_144991.2 | 297 | Intron | NP_659428.2 |