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GCCGGGCCTTCACGTCCAGGAGCAC[C/T]TGGTACTCCTGGTTCTGTCGCTCCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616679 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KRT40 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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KRT40 - keratin 40 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_182497.3 | 1280 | Silent Mutation | CAA,CAG | Q,Q 373 | NP_872303.2 | |
XM_011524339.2 | 1280 | Intron | XP_011522641.2 | |||
XM_017024189.1 | 1280 | Silent Mutation | CAA,CAG | Q,Q 426 | XP_016879678.1 |