Product Details

SNP ID

rs11545529

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:47259862 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGGCCCAGGGAGGCAGCAGCTGC[A/G]TCCTCAGAGAGGAAGCCAGGATGCC

Phenotype

MIM: 603584 MIM: 602423

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MADD PubMed Links

Gene Details

Gene

MADD

Gene Name

MAP kinase activating death domain

There are no transcripts associated with this gene.

Gene

NR1H3

Gene Name

nuclear receptor subfamily 1 group H member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130101.2	177	Missense Mutation	ATC,GTC	I39V	NP_001123573.1
NM_001130102.2	177	UTR 5			NP_001123574.1
NM_001251934.1	177	Missense Mutation	ATC,GTC	I45V	NP_001238863.1
NM_001251935.1	177	Missense Mutation	ATC,GTC	I45V	NP_001238864.1
NM_005693.3	177	Missense Mutation	ATC,GTC	I39V	NP_005684.2
XM_005252705.1	177	Missense Mutation	ATC,GTC	I39V	XP_005252762.1
XM_005252706.1	177	Missense Mutation	ATC,GTC	I39V	XP_005252763.1
XM_005252707.4	177	Missense Mutation	ATC,GTC	I39V	XP_005252764.1
XM_005252709.1	177	UTR 5			XP_005252766.1
XM_005252710.1	177	UTR 5			XP_005252767.1
XM_005252713.3	177	Missense Mutation	ATC,GTC	I39V	XP_005252770.1
XM_005252715.2	177	Missense Mutation	ATC,GTC	I39V	XP_005252772.1
XM_005252716.3	177	UTR 5			XP_005252773.1
XM_005252718.3	177	UTR 5			XP_005252775.1
XM_006718112.1	177	Missense Mutation	ATC,GTC	I39V	XP_006718175.1
XM_006718113.1	177	Missense Mutation	ATC,GTC	I39V	XP_006718176.1
XM_006718115.1	177	UTR 5			XP_006718178.1
XM_006718116.1	177	UTR 5			XP_006718179.1
XM_011519805.2	177	Missense Mutation	ATC,GTC	I39V	XP_011518107.1
XM_011519806.1	177	UTR 5			XP_011518108.1
XM_011519807.1	177	UTR 5			XP_011518109.1
XM_011519808.2	177	Intron			XP_011518110.1
XM_017017056.1	177	UTR 5			XP_016872545.1
XM_017017057.1	177	UTR 5			XP_016872546.1
XM_017017058.1	177	UTR 5			XP_016872547.1

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