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ACCTGCTCCCGCCGAGTTCCGCGCT[C/T]AGCTCGACCCCGCCTTCATCAAGAC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602496 MIM: 180370 | ||||||||||||||||||||
Literature Links: |
MPST PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
MPST - mercaptopyruvate sulfurtransferase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001013436.2 | 626 | Nonsense Mutation | CAG,TAG | Q,* 157 | NP_001013454.1 | |
NM_001130517.2 | 626 | Nonsense Mutation | CAG,TAG | Q,* 157 | NP_001123989.1 | |
NM_021126.5 | 626 | Nonsense Mutation | CAG,TAG | Q,* 177 | NP_066949.2 | |
XM_005261610.3 | 626 | Nonsense Mutation | CAG,TAG | Q,* 157 | XP_005261667.1 | |
XM_011530195.1 | 626 | Nonsense Mutation | CAG,TAG | Q,* 177 | XP_011528497.1 | |
XM_011530196.1 | 626 | Nonsense Mutation | CAG,TAG | Q,* 157 | XP_011528498.1 |
TST - thiosulfate sulfurtransferase | ||||||
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There are no transcripts associated with this gene. |