Product Details

SNP ID

rs113353493

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:47259788 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCTTGTGCCTCTCTTTTGGAGCT[A/C]AGACTCTGCGGTGGAGCTGTGGAAG

Phenotype

MIM: 603584 MIM: 602423

Polymorphism

A/C, Transversion 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	143	Intron			NP_001123573.1
NM_001130102.2	143	Intron			NP_001123574.1
NM_001251934.1	143	Intron			NP_001238863.1
NM_001251935.1	143	Intron			NP_001238864.1
NM_005693.3	143	Intron			NP_005684.2
XM_005252705.1	143	Intron			XP_005252762.1
XM_005252706.1	143	Intron			XP_005252763.1
XM_005252707.4	143	Intron			XP_005252764.1
XM_005252709.1	143	UTR 5			XP_005252766.1
XM_005252710.1	143	UTR 5			XP_005252767.1
XM_005252713.3	143	Intron			XP_005252770.1
XM_005252715.2	143	Intron			XP_005252772.1
XM_005252716.3	143	Intron			XP_005252773.1
XM_005252718.3	143	Intron			XP_005252775.1
XM_006718112.1	143	Intron			XP_006718175.1
XM_006718113.1	143	Intron			XP_006718176.1
XM_006718115.1	143	UTR 5			XP_006718178.1
XM_006718116.1	143	Intron			XP_006718179.1
XM_011519805.2	143	Intron			XP_011518107.1
XM_011519806.1	143	Intron			XP_011518108.1
XM_011519807.1	143	Intron			XP_011518109.1
XM_011519808.2	143	Intron			XP_011518110.1
XM_017017056.1	143	Intron			XP_016872545.1
XM_017017057.1	143	Intron			XP_016872546.1
XM_017017058.1	143	Intron			XP_016872547.1

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