Product Details
- SNP ID
-
rs199562226
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.16:2048740 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AAACAGACGGAGTTTATCATCACCG[C/T]GGAAATACTGAGAGTGAGTGAGCTA
- Phenotype
-
MIM: 602656
MIM: 606553
MIM: 191092
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
NTHL1
PubMed Links
Gene Details
- Gene
- NTHL1
- Gene Name
- nth-like DNA glycosylase 1
- Gene
- SLC9A3R2
- Gene Name
- SLC9A3 regulator 2
There are no transcripts associated with this gene.
- Gene
- TSC2
- Gene Name
- tuberous sclerosis 2
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_000548.4 |
226 |
Missense Mutation |
GCG,GTG |
A42V |
NP_000539.2 |
NM_001077183.2 |
226 |
Missense Mutation |
GCG,GTG |
A42V |
NP_001070651.1 |
NM_001114382.2 |
226 |
Missense Mutation |
GCG,GTG |
A42V |
NP_001107854.1 |
NM_001318827.1 |
226 |
Missense Mutation |
GCG,GTG |
A42V |
NP_001305756.1 |
NM_001318829.1 |
226 |
Intron |
|
|
NP_001305758.1 |
NM_001318831.1 |
226 |
UTR 5 |
|
|
NP_001305760.1 |
NM_001318832.1 |
226 |
Missense Mutation |
GCG,GTG |
A53V |
NP_001305761.1 |
XM_005255529.4 |
226 |
Missense Mutation |
GCG,GTG |
A42V |
XP_005255586.2 |
XM_005255531.4 |
226 |
Missense Mutation |
GCG,GTG |
A42V |
XP_005255588.2 |
XM_011522636.2 |
226 |
Missense Mutation |
GCG,GTG |
A42V |
XP_011520938.1 |
XM_011522637.2 |
226 |
Missense Mutation |
GCG,GTG |
A42V |
XP_011520939.1 |
XM_011522638.2 |
226 |
Missense Mutation |
GCG,GTG |
A133V |
XP_011520940.2 |
XM_011522639.2 |
226 |
Missense Mutation |
GCG,GTG |
A42V |
XP_011520941.1 |
XM_011522640.2 |
226 |
Missense Mutation |
GCG,GTG |
A42V |
XP_011520942.1 |
XM_017023615.1 |
226 |
Missense Mutation |
GCG,GTG |
A42V |
XP_016879104.1 |
XM_017023616.1 |
226 |
Missense Mutation |
GCG,GTG |
A42V |
XP_016879105.1 |
XM_017023617.1 |
226 |
Missense Mutation |
GCG,GTG |
A133V |
XP_016879106.1 |
XM_017023618.1 |
226 |
UTR 5 |
|
|
XP_016879107.1 |
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