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AGTGGCTACAGGTCGGCGATGAGTG[C/T]CCAGTCCTCCCTCGTCATGCACCCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608801 MIM: 600599 MIM: 611487 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GCDH 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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GCDH - glutaryl-CoA dehydrogenase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000159.3 | 505 | Missense Mutation | GCC,GTC | A,V 143 | NP_000150.1 | |
NM_013976.3 | 505 | Missense Mutation | GCC,GTC | A,V 143 | NP_039663.1 | |
XM_006722721.2 | 505 | Missense Mutation | GCC,GTC | A,V 143 | XP_006722784.1 | |
XM_011527899.2 | 505 | Missense Mutation | GCC,GTC | A,V 143 | XP_011526201.1 | |
XM_011527900.2 | 505 | Missense Mutation | GCC,GTC | A,V 143 | XP_011526202.1 | |
XM_017026580.1 | 505 | Missense Mutation | GCC,GTC | A,V 143 | XP_016882069.1 |
KLF1 - Kruppel like factor 1 | ||||||
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There are no transcripts associated with this gene. |
SYCE2 - synaptonemal complex central element protein 2 | ||||||
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There are no transcripts associated with this gene. |