Product Details

SNP ID

rs41275182

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:47248762 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAAGGAGCTGGAGGAGAGCCGCCC[A/G]GCTCCAGCCGGACCGCTTGCCCGCC

Phenotype

MIM: 171650 MIM: 600811 MIM: 602423

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ACP2 PubMed Links

Gene Details

Gene

ACP2

Gene Name

acid phosphatase 2, lysosomal

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001302489.1	139	Intron			NP_001289418.1
NM_001302490.1	139	Silent Mutation			NP_001289419.1
NM_001302491.1	139	Silent Mutation			NP_001289420.1
NM_001302492.1	139	UTR 5			NP_001289421.1
NM_001610.3	139	Silent Mutation			NP_001601.1

Gene

DDB2

Gene Name

damage specific DNA binding protein 2

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	139	Intron			NP_001123573.1
NM_001130102.2	139	Intron			NP_001123574.1
NM_001251934.1	139	UTR 5			NP_001238863.1
NM_001251935.1	139	UTR 5			NP_001238864.1
NM_005693.3	139	Intron			NP_005684.2
XM_005252705.1	139	Intron			XP_005252762.1
XM_005252706.1	139	Intron			XP_005252763.1
XM_005252707.4	139	Intron			XP_005252764.1
XM_005252709.1	139	Intron			XP_005252766.1
XM_005252710.1	139	Intron			XP_005252767.1
XM_005252713.3	139	Intron			XP_005252770.1
XM_005252715.2	139	Intron			XP_005252772.1
XM_005252716.3	139	Intron			XP_005252773.1
XM_005252718.3	139	Intron			XP_005252775.1
XM_006718112.1	139	Intron			XP_006718175.1
XM_006718113.1	139	Intron			XP_006718176.1
XM_006718115.1	139	Intron			XP_006718178.1
XM_006718116.1	139	Intron			XP_006718179.1
XM_011519805.2	139	Intron			XP_011518107.1
XM_011519806.1	139	Intron			XP_011518108.1
XM_011519807.1	139	Intron			XP_011518109.1
XM_011519808.2	139	Intron			XP_011518110.1
XM_017017056.1	139	Intron			XP_016872545.1
XM_017017057.1	139	Intron			XP_016872546.1
XM_017017058.1	139	Intron			XP_016872547.1

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