Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTTTATCATCACCGCGGAAATACTG[A/T]GAGTGAGTGAGCTACCTGTGTCTTT
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 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318193.1 | 237 | Intron | NP_001305122.1 | |||
NM_001318194.1 | 237 | Intron | NP_001305123.1 | |||
NM_002528.6 | 237 | Intron | NP_002519.1 | |||
XM_017023253.1 | 237 | Intron | XP_016878742.1 |
SLC9A3R2 - SLC9A3 regulator 2 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
TSC2 - tuberous sclerosis 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000548.4 | 237 | Nonsense Mutation | AGA,TGA | R,* 46 | NP_000539.2 | |
NM_001077183.2 | 237 | Nonsense Mutation | AGA,TGA | R,* 46 | NP_001070651.1 | |
NM_001114382.2 | 237 | Nonsense Mutation | AGA,TGA | R,* 46 | NP_001107854.1 | |
NM_001318827.1 | 237 | Nonsense Mutation | AGA,TGA | R,* 46 | NP_001305756.1 | |
NM_001318829.1 | 237 | Intron | NP_001305758.1 | |||
NM_001318831.1 | 237 | UTR 5 | NP_001305760.1 | |||
NM_001318832.1 | 237 | Nonsense Mutation | AGA,TGA | R,* 57 | NP_001305761.1 | |
XM_005255529.4 | 237 | Nonsense Mutation | AGA,TGA | R,* 46 | XP_005255586.2 | |
XM_005255531.4 | 237 | Nonsense Mutation | AGA,TGA | R,* 46 | XP_005255588.2 | |
XM_011522636.2 | 237 | Nonsense Mutation | AGA,TGA | R,* 46 | XP_011520938.1 | |
XM_011522637.2 | 237 | Nonsense Mutation | AGA,TGA | R,* 46 | XP_011520939.1 | |
XM_011522638.2 | 237 | Nonsense Mutation | AGA,TGA | R,* 137 | XP_011520940.2 | |
XM_011522639.2 | 237 | Nonsense Mutation | AGA,TGA | R,* 46 | XP_011520941.1 | |
XM_011522640.2 | 237 | Nonsense Mutation | AGA,TGA | R,* 46 | XP_011520942.1 | |
XM_017023615.1 | 237 | Nonsense Mutation | AGA,TGA | R,* 46 | XP_016879104.1 | |
XM_017023616.1 | 237 | Nonsense Mutation | AGA,TGA | R,* 46 | XP_016879105.1 | |
XM_017023617.1 | 237 | Nonsense Mutation | AGA,TGA | R,* 137 | XP_016879106.1 | |
XM_017023618.1 | 237 | UTR 5 | XP_016879107.1 |