Product Details

SNP ID

rs1048794

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:2039927 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCGGCCAGAGCCATGCGGCCATCA[A/G]AGACCCTGGGCGGCCGGGCAGAGGG

Phenotype

MIM: 602656 MIM: 606553 MIM: 191092

Polymorphism

A/G, 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	1046	Silent Mutation	CTC,CTT	L255L	NP_001305122.1
NM_001318194.1	1046	Silent Mutation	CTC,CTT	L194L	NP_001305123.1
NM_002528.6	1046	Silent Mutation	CTC,CTT	L312L	NP_002519.1
XM_017023253.1	1046	Silent Mutation	CTG,TTG	L341L	XP_016878742.1

Gene

SLC9A3R2

Gene Name

SLC9A3 regulator 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130012.2	1046	Intron			NP_001123484.1
NM_001252073.1	1046	Intron			NP_001239002.1
NM_001252075.1	1046	Intron			NP_001239004.1
NM_001252076.1	1046	Intron			NP_001239005.1
NM_004785.5	1046	Intron			NP_004776.3
XM_005255702.4	1046	Intron			XP_005255759.1
XM_006720981.1	1046	Intron			XP_006721044.1
XM_017023894.1	1046	Intron			XP_016879383.1
XM_017023895.1	1046	Intron			XP_016879384.1

Gene

TSC2

Gene Name

tuberous sclerosis 2

There are no transcripts associated with this gene.

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