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CACCATGTCTAGCAGCGCAGAGAGA[C/T]GGAGCTCAGAGGCAACTTCCTCTTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600909 MIM: 603294 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
LSS 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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LSS - lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) | ||||||
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There are no transcripts associated with this gene. |
MCM3AP - minichromosome maintenance complex component 3 associated protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003906.4 | 6489 | Missense Mutation | CAT,CGT | H,R 1970 | NP_003897.2 | |
XM_005261203.4 | 6489 | Missense Mutation | CAT,CGT | H,R 1970 | XP_005261260.1 | |
XM_005261204.4 | 6489 | Missense Mutation | CAT,CGT | H,R 1970 | XP_005261261.1 | |
XM_005261205.3 | 6489 | Missense Mutation | CAT,CGT | H,R 1970 | XP_005261262.1 |
MCM3AP-AS1 - MCM3AP antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |