Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602656 MIM: 606553 MIM: 191092 | ||||||||||||||||||||
Literature Links: |
NTHL1 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 |
NTHL1 - nth-like DNA glycosylase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318193.1 | 815 | Missense Mutation | ACC,GCC | T,A 207 | NP_001305122.1 | |
NM_001318194.1 | 815 | Missense Mutation | ACC,GCC | T,A 146 | NP_001305123.1 | |
NM_002528.6 | 815 | Missense Mutation | ACC,GCC | T,A 264 | NP_002519.1 | |
XM_017023253.1 | 815 | Missense Mutation | ACC,GCC | T,A 264 | XP_016878742.1 |
SLC9A3R2 - SLC9A3 regulator 2 | ||||||
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There are no transcripts associated with this gene. |
TSC2 - tuberous sclerosis 2 | ||||||
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There are no transcripts associated with this gene. |