Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTTCTGGGAGTAAGCCACTGGTCGC[C/T]ACTGTGCAAAGCCTGATGGGAGGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
2 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 - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
GLMP - glycosylated lysosomal membrane protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001256604.1 | 548 | Intron | NP_001243533.1 | |||
NM_001256605.1 | 548 | Nonsense Mutation | TAG,TGG | *,W 196 | NP_001243534.1 | |
NM_001256608.1 | 548 | Intron | NP_001243537.1 | |||
NM_001256609.1 | 548 | Nonsense Mutation | TAG,TGG | *,W 201 | NP_001243538.1 | |
NM_144580.2 | 548 | Nonsense Mutation | TAG,TGG | *,W 282 | NP_653181.1 | |
XM_011509117.2 | 548 | Nonsense Mutation | TAG,TGG | *,W 105 | XP_011507419.1 | |
XM_017000149.1 | 548 | Intron | XP_016855638.1 |
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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There are no transcripts associated with this gene. |