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GGGTGCACAGGCAGACAGGTCTGCT[A/G]GCCGAAGCCCACCAAGAGTCCATTG
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 | |||
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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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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 | 969 | Nonsense Mutation | CAG,TAG | Q,* 230 | NP_001305122.1 | |
NM_001318194.1 | 969 | Nonsense Mutation | CAG,TAG | Q,* 169 | NP_001305123.1 | |
NM_002528.6 | 969 | Nonsense Mutation | CAG,TAG | Q,* 287 | NP_002519.1 | |
XM_017023253.1 | 969 | Missense Mutation | CCA,CTA | P,L 315 | XP_016878742.1 |
SLC9A3R2 - SLC9A3 regulator 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130012.2 | 969 | Intron | NP_001123484.1 | |||
NM_001252073.1 | 969 | Intron | NP_001239002.1 | |||
NM_001252075.1 | 969 | Intron | NP_001239004.1 | |||
NM_001252076.1 | 969 | Intron | NP_001239005.1 | |||
NM_004785.5 | 969 | Intron | NP_004776.3 | |||
XM_005255702.4 | 969 | Intron | XP_005255759.1 | |||
XM_006720981.1 | 969 | Intron | XP_006721044.1 | |||
XM_017023894.1 | 969 | Intron | XP_016879383.1 | |||
XM_017023895.1 | 969 | Intron | XP_016879384.1 |
TSC2 - tuberous sclerosis 2 | ||||||
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There are no transcripts associated with this gene. |