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CTGCCCAGTTCCTCGGCGTCATCAG[A/G]GTTGACCAGCAGGATGCAGTGGAAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607490 MIM: 612060 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
LDHD 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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LDHD - lactate dehydrogenase D | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_153486.3 | 1286 | Missense Mutation | NP_705690.2 | |||
NM_194436.2 | 1286 | Missense Mutation | NP_919417.1 |
ZNRF1 - zinc and ring finger 1, E3 ubiquitin protein ligase | ||||||
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There are no transcripts associated with this gene. |