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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318193.1 226 Intron NP_001305122.1
NM_001318194.1 226 Intron NP_001305123.1
NM_002528.6 226 Intron NP_002519.1
XM_017023253.1 226 Intron XP_016878742.1
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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