Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TGTGGACGTTGCCCTGGCCCTCACA[A/C]TCTCCAACCTCATCTCCCTGGTGAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 100720 MIM: 613858 | ||||||||||||||||||||
Literature Links: |
CHRND 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 |
CHRND - cholinergic receptor nicotinic delta subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000751.2 | 206 | Missense Mutation | ATC,CTC | I,L 60 | NP_000742.1 | |
NM_001256657.1 | 206 | Missense Mutation | ATC,CTC | I,L 60 | NP_001243586.1 | |
NM_001311195.1 | 206 | UTR 5 | NP_001298124.1 | |||
NM_001311196.1 | 206 | UTR 5 | NP_001298125.1 | |||
XM_011510524.2 | 206 | UTR 5 | XP_011508826.1 |
PRSS56 - protease, serine 56 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001195129.1 | 206 | Intron | NP_001182058.1 |