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TCGTTAAACAAACAGTCCCAGATCC[A/G]AAGCACTGTCTGCAGAGACATGGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 153330 | ||||||||||||||||||||
Literature Links: |
GRTP1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
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 |
GRTP1 - growth hormone regulated TBC protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286732.1 | 980 | Missense Mutation | CGG,TGG | R,W 249 | NP_001273661.1 | |
NM_001286733.1 | 980 | Intron | NP_001273662.1 | |||
NM_024719.3 | 980 | Missense Mutation | CGG,TGG | R,W 249 | NP_078995.2 | |
XM_005268333.3 | 980 | Missense Mutation | CGG,TGG | R,W 196 | XP_005268390.1 | |
XM_011537521.2 | 980 | Intron | XP_011535823.1 | |||
XM_011537522.2 | 980 | Intron | XP_011535824.1 | |||
XM_017020755.1 | 980 | Missense Mutation | CGG,TGG | R,W 171 | XP_016876244.1 | |
XM_017020756.1 | 980 | Missense Mutation | CGG,TGG | R,W 146 | XP_016876245.1 |
LAMP1 - lysosomal associated membrane protein 1 | ||||||
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There are no transcripts associated with this gene. |