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CTCCCTGAGAACCCCTACTCTCAGG[G/T]CAAGGGATTTCCTGCCCCCTCGCAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
18 submissions
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Phenotype: |
MIM: 609473 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CGN 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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CGN - cingulin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_020770.2 | 467 | Missense Mutation | GGC,GTC | G,V 108 | NP_065821.1 | |
XM_005245365.4 | 467 | Missense Mutation | GGC,GTC | G,V 108 | XP_005245422.1 |