Product Details

SNP ID

rs2531217

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:2040403 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTACATGTGACCATCTTGGCTGCCC[A/C]TGAGGTGCTGGGGCAGGGGCTGAGC

Phenotype

MIM: 602656 MIM: 606553 MIM: 191092

Polymorphism

A/C, Transversion 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		Intron			NP_001305122.1
NM_001318194.1		Intron			NP_001305123.1
NM_002528.6		Intron			NP_002519.1
XM_017023253.1		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

There are no transcripts associated with this gene.

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