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ACATGCTCAGGGCAGAAGTCAGAGC[A/G]GAGGAGGCGGGAAAAGTAGATTATG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609799 MIM: 610917 MIM: 602326 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NARR 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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NARR - nine-amino acid residue-repeats | ||||||
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There are no transcripts associated with this gene. |
NEK8 - NIMA related kinase 8 | ||||||
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There are no transcripts associated with this gene. |
RAB34 - RAB34, member RAS oncogene family | ||||||
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There are no transcripts associated with this gene. |
RPL23A - ribosomal protein L23a | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000984.5 | 661 | Intron | NP_000975.2 |
SNORD42A - small nucleolar RNA, C/D box 42A | ||||||
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There are no transcripts associated with this gene. |
SNORD42B - small nucleolar RNA, C/D box 42B | ||||||
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There are no transcripts associated with this gene. |
SNORD4A - small nucleolar RNA, C/D box 4A | ||||||
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There are no transcripts associated with this gene. |
SNORD4B - small nucleolar RNA, C/D box 4B | ||||||
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There are no transcripts associated with this gene. |
TLCD1 - TLC domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001160407.1 | 661 | Missense Mutation | NP_001153879.1 | |||
NM_138463.3 | 661 | Missense Mutation | NP_612472.1 | |||
XM_006721671.3 | 661 | Missense Mutation | XP_006721734.1 | |||
XM_011524278.2 | 661 | UTR 3 | XP_011522580.1 |