Product Details

SNP ID

rs140618379

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:2050409 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTCATCTCTCTCCAGGAACTGAGC[A/G]TGGAATGTGGCCTCAACAATCGCAT

Phenotype

MIM: 602656 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

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	249	Missense Mutation	ATG,GTG	M50V	NP_000539.2
NM_001077183.2	249	Missense Mutation	ATG,GTG	M50V	NP_001070651.1
NM_001114382.2	249	Missense Mutation	ATG,GTG	M50V	NP_001107854.1
NM_001318827.1	249	Missense Mutation	ATG,GTG	M50V	NP_001305756.1
NM_001318829.1	249	Missense Mutation	ATG,GTG	M1V	NP_001305758.1
NM_001318831.1	249	UTR 5			NP_001305760.1
NM_001318832.1	249	Missense Mutation	ATG,GTG	M61V	NP_001305761.1
XM_005255529.4	249	Missense Mutation	ATG,GTG	M50V	XP_005255586.2
XM_005255531.4	249	Missense Mutation	ATG,GTG	M50V	XP_005255588.2
XM_011522636.2	249	Missense Mutation	ATG,GTG	M50V	XP_011520938.1
XM_011522637.2	249	Missense Mutation	ATG,GTG	M50V	XP_011520939.1
XM_011522638.2	249	Missense Mutation	ATG,GTG	M141V	XP_011520940.2
XM_011522639.2	249	Missense Mutation	ATG,GTG	M50V	XP_011520941.1
XM_011522640.2	249	Missense Mutation	ATG,GTG	M50V	XP_011520942.1
XM_017023615.1	249	Missense Mutation	ATG,GTG	M50V	XP_016879104.1
XM_017023616.1	249	Missense Mutation	ATG,GTG	M50V	XP_016879105.1
XM_017023617.1	249	Missense Mutation	ATG,GTG	M141V	XP_016879106.1
XM_017023618.1	249	UTR 5			XP_016879107.1

View Full Product Details