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CTCTTCTTCCTCTTGGGGAGGCCCC[C/T]GGCCAGAGCCGGGCTCAGAGGGGGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
5 submissions
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Phenotype: |
MIM: 600339 MIM: 611836 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
HDGF 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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HDGF - hepatoma-derived growth factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001126050.1 | 731 | Missense Mutation | NP_001119522.1 | |||
NM_001126051.1 | 731 | Missense Mutation | NP_001119523.1 | |||
NM_001319186.1 | 731 | Missense Mutation | NP_001306115.1 | |||
NM_001319187.1 | 731 | Missense Mutation | NP_001306116.1 | |||
NM_001319188.1 | 731 | Missense Mutation | NP_001306117.1 | |||
NM_004494.2 | 731 | Missense Mutation | NP_004485.1 | |||
XM_011509453.2 | 731 | Missense Mutation | XP_011507755.2 | |||
XM_011509454.2 | 731 | Missense Mutation | XP_011507756.1 | |||
XM_011509455.2 | 731 | Missense Mutation | XP_011507757.1 |
MRPL24 - mitochondrial ribosomal protein L24 | ||||||
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There are no transcripts associated with this gene. |
RRNAD1 - ribosomal RNA adenine dimethylase domain containing 1 | ||||||
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There are no transcripts associated with this gene. |