Search Thermo Fisher Scientific
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GGAGTTATATCTTTACCCAGAGTTT[C/T]CATTTCTTCTTCTTTCTTCTTTCTT
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 |
---|---|---|
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 |
BTC - betacellulin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001316963.1 | 689 | Missense Mutation | AAA,GAA | K,E 110 | NP_001303892.1 | |
NM_001729.3 | 689 | Missense Mutation | AAA,GAA | K,E 159 | NP_001720.1 | |
XM_011532211.1 | 689 | Missense Mutation | AAA,GAA | K,E 159 | XP_011530513.1 | |
XM_017008568.1 | 689 | Intron | XP_016864057.1 |