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CGGGGTCCGCTCAGCTCTACATCCA[C/G]CACGTGCATGTCCGTGAGGCTGGGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614545 MIM: 615324 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ASPDH 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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ASPDH - aspartate dehydrogenase domain containing | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001024656.2 | 735 | Missense Mutation | CTG,GTG | L,V 120 | NP_001019827.2 | |
NM_001114598.1 | 735 | Missense Mutation | CTG,GTG | L,V 225 | NP_001108070.1 |
EMC10 - ER membrane protein complex subunit 10 | ||||||
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There are no transcripts associated with this gene. |
JOSD2 - Josephin domain containing 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001270639.1 | 735 | Intron | NP_001257568.1 | |||
NM_001270640.1 | 735 | Intron | NP_001257569.1 | |||
NM_001270641.1 | 735 | Intron | NP_001257570.1 | |||
NM_001270686.1 | 735 | Intron | NP_001257615.1 | |||
NM_138334.3 | 735 | Intron | NP_612207.1 | |||
XM_011526434.2 | 735 | Intron | XP_011524736.1 |
LRRC4B - leucine rich repeat containing 4B | ||||||
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There are no transcripts associated with this gene. |