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TCTCCCCCTCATGGAGAGAAGCTTT[G/T]TATGGCTGTCATGCTTAGACAGTGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605447 MIM: 603012 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C6orf48 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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C6orf48 - chromosome 6 open reading frame 48 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001040437.2 | 395 | Missense Mutation | GTA,TTA | V,L 6 | NP_001035527.1 | |
NM_001040438.2 | 395 | Missense Mutation | GTA,TTA | V,L 6 | NP_001035528.1 | |
NM_001287482.1 | 395 | Missense Mutation | GTA,TTA | V,L 6 | NP_001274411.1 | |
NM_001287483.1 | 395 | Missense Mutation | GTA,TTA | V,L 6 | NP_001274412.1 | |
NM_001287484.1 | 395 | Missense Mutation | GTA,TTA | V,L 6 | NP_001274413.1 | |
NM_001287485.1 | 395 | Missense Mutation | GTA,TTA | V,L 6 | NP_001274414.1 | |
NM_001287486.1 | 395 | Missense Mutation | GTA,TTA | V,L 6 | NP_001274415.1 | |
NM_001287487.1 | 395 | Missense Mutation | GTA,TTA | V,L 6 | NP_001274416.1 | |
NM_001287488.1 | 395 | Missense Mutation | GTA,TTA | V,L 6 | NP_001274417.1 |
HSPA1B - heat shock protein family A (Hsp70) member 1B | ||||||
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There are no transcripts associated with this gene. |
SNORD48 - small nucleolar RNA, C/D box 48 | ||||||
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There are no transcripts associated with this gene. |
SNORD52 - small nucleolar RNA, C/D box 52 | ||||||
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There are no transcripts associated with this gene. |