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GAGGCATTGCTCTTTCAGGGTATAC[A/C]CTGCAGTGTGATGTTGGCAAAAACA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 610962 MIM: 615531 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GLMP 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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GLMP - glycosylated lysosomal membrane protein | ||||||
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There are no transcripts associated with this gene. |
SMG5 - SMG5, nonsense mediated mRNA decay factor | ||||||
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There are no transcripts associated with this gene. |
TMEM79 - transmembrane protein 79 | ||||||
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There are no transcripts associated with this gene. |
VHLL - von Hippel-Lindau tumor suppressor like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001004319.2 | 857 | Missense Mutation | GGT,TGT | G,C 137 | NP_001004319.1 |