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GGCTGACTGGTCACAGGGTAGGACA[C/T]AGCTGCAGAGGTGGGAGGGTAGGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611764 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CNFN 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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CNFN - cornifelin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_032488.3 | 56 | Missense Mutation | ATG,GTG | M,V 1 | NP_115877.2 | |
XM_005259332.2 | 56 | Missense Mutation | ATG,GTG | M,V 14 | XP_005259389.1 | |
XM_011527396.1 | 56 | Missense Mutation | ATG,GTG | M,V 14 | XP_011525698.1 | |
XM_011527397.1 | 56 | Missense Mutation | ATG,GTG | M,V 14 | XP_011525699.1 |
LIPE-AS1 - LIPE antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |
LOC101930071 - uncharacterized LOC101930071 | ||||||
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There are no transcripts associated with this gene. |