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AATTGCTTTAGCCATTCTTGTGCCT[A/C]TTCTAGAGATTTAGTTTCATCTGAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612136 MIM: 612137 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ECHDC1 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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ECHDC1 - ethylmalonyl-CoA decarboxylase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001002030.1 | 904 | Nonsense Mutation | GAG,TAG | E,* 238 | NP_001002030.1 | |
NM_001105544.1 | 904 | Nonsense Mutation | GAG,TAG | E,* 163 | NP_001099014.1 | |
NM_001105545.1 | 904 | UTR 3 | NP_001099015.1 | |||
NM_001139510.1 | 904 | Nonsense Mutation | GAG,TAG | E,* 244 | NP_001132982.1 | |
NM_018479.3 | 904 | UTR 3 | NP_060949.2 | |||
XM_005267047.2 | 904 | Nonsense Mutation | GAG,TAG | E,* 238 | XP_005267104.1 | |
XM_005267048.1 | 904 | Nonsense Mutation | GAG,TAG | E,* 238 | XP_005267105.1 | |
XM_005267049.2 | 904 | UTR 3 | XP_005267106.1 | |||
XM_005267050.2 | 904 | UTR 3 | XP_005267107.1 | |||
XM_011535942.2 | 904 | Nonsense Mutation | GAG,TAG | E,* 126 | XP_011534244.1 | |
XM_011535943.2 | 904 | Intron | XP_011534245.1 | |||
XM_017011056.1 | 904 | Nonsense Mutation | GAG,TAG | E,* 163 | XP_016866545.1 |