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GTCAGCAGGCCAAGGAGGAGGTGTC[A/G]CAGCTGGTGCGGGGGCTGGGGGCTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
9 submissions
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Phenotype: |
MIM: 158340 MIM: 600986 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KRTCAP2 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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KRTCAP2 - keratinocyte associated protein 2 | ||||||
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There are no transcripts associated with this gene. |
MUC1 - mucin 1, cell surface associated | ||||||
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There are no transcripts associated with this gene. |
TRIM46 - tripartite motif containing 46 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001256599.1 | 1236 | Silent Mutation | TCA,TCG | S,S 291 | NP_001243528.1 | |
NM_001256600.1 | 1236 | Intron | NP_001243529.1 | |||
NM_001256601.1 | 1236 | Silent Mutation | TCA,TCG | S,S 301 | NP_001243530.1 | |
NM_001282378.1 | 1236 | Silent Mutation | TCA,TCG | S,S 188 | NP_001269307.1 | |
NM_001282379.1 | 1236 | Silent Mutation | TCA,TCG | S,S 314 | NP_001269308.1 | |
NM_025058.4 | 1236 | Silent Mutation | TCA,TCG | S,S 314 | NP_079334.3 | |
XM_011510002.1 | 1236 | Silent Mutation | TCA,TCG | S,S 343 | XP_011508304.1 | |
XM_017002393.1 | 1236 | Silent Mutation | TCA,TCG | S,S 301 | XP_016857882.1 |