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TGCTCCAAAAGTGGGGGACAGCACC[C/T]GGGGGGCCTGGGCCACCCCCATCCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611825 MIM: 614966 MIM: 608613 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
LRRC46 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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LRRC46 - leucine rich repeat containing 46 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_033413.3 | 1043 | Intron | NP_219481.1 | |||
XM_005257775.4 | 1043 | Intron | XP_005257832.1 |
MRPL10 - mitochondrial ribosomal protein L10 | ||||||
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There are no transcripts associated with this gene. |
SCRN2 - secernin 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145023.1 | 1043 | Missense Mutation | CAG,CGG | Q,R 330 | NP_001138495.1 | |
NM_138355.3 | 1043 | Missense Mutation | CAG,CGG | Q,R 330 | NP_612364.2 | |
XM_005257776.4 | 1043 | Missense Mutation | CAG,CGG | Q,R 330 | XP_005257833.1 | |
XM_017025286.1 | 1043 | Missense Mutation | CAG,CGG | Q,R 330 | XP_016880775.1 |
SP6 - Sp6 transcription factor | ||||||
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There are no transcripts associated with this gene. |