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CTGACTGGTGCCAGCGGGGAGGACC[A/G]GAGAGAACAGGGTGCTAGCAGGGCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611230 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
LMF2 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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LMF2 - lipase maturation factor 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_033200.2 | 2461 | Missense Mutation | CGG,TGG | R,W 662 | NP_149977.2 | |
XM_005261955.3 | 2461 | Missense Mutation | CGG,TGG | R,W 637 | XP_005262012.1 | |
XM_006724426.3 | 2461 | Missense Mutation | CGG,TGG | R,W 607 | XP_006724489.1 | |
XM_006724427.3 | 2461 | Missense Mutation | CGG,TGG | R,W 607 | XP_006724490.1 | |
XM_017029077.1 | 2461 | Missense Mutation | CGG,TGG | R,W 624 | XP_016884566.1 |
NCAPH2 - non-SMC condensin II complex subunit H2 | ||||||
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There are no transcripts associated with this gene. |