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GAATATAGCCGTTCTGGAAATCCCA[C/T]TAGGAATTGCCTTGAAAAAGCAGTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
28 submissions
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Phenotype: |
MIM: 607657 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CTH 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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CTH - cystathionine gamma-lyase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001190463.1 | 398 | Missense Mutation | ACT,ATT | T,I 67 | NP_001177392.1 | |
NM_001902.5 | 398 | Missense Mutation | ACT,ATT | T,I 67 | NP_001893.2 | |
NM_153742.4 | 398 | Missense Mutation | ACT,ATT | T,I 67 | NP_714964.2 | |
XM_005270509.3 | 398 | UTR 5 | XP_005270566.1 | |||
XM_017000416.1 | 398 | Intron | XP_016855905.1 |