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TTCTTCTTCTTTCTTCTTTCTTTTA[C/T]GACGTTTCCGAAGAGGGCTTGGAAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600345 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BTC 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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BTC - betacellulin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001316963.1 | 660 | Missense Mutation | CAT,CGT | H,R 100 | NP_001303892.1 | |
NM_001729.3 | 660 | Missense Mutation | CAT,CGT | H,R 149 | NP_001720.1 | |
XM_011532211.1 | 660 | Missense Mutation | CAT,CGT | H,R 149 | XP_011530513.1 | |
XM_017008568.1 | 660 | Intron | XP_016864057.1 |