Product Details

SNP ID

rs147453428

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:47240122 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGGGGGCTGAGTGGTTGTCAGGC[A/G]TGGTCCTCCCCATCTGCGACGTGGC

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	1253	Silent Mutation	CAC,CAT	H394H	NP_001289418.1
NM_001302490.1	1253	Silent Mutation	CAC,CAT	H390H	NP_001289419.1
NM_001302491.1	1253	Silent Mutation	CAC,CAT	H359H	NP_001289420.1
NM_001302492.1	1253	Silent Mutation	CAC,CAT	H235H	NP_001289421.1
NM_001610.3	1253	Silent Mutation	CAC,CAT	H422H	NP_001601.1

Gene

DDB2

Gene Name

damage specific DNA binding protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000107.2	1253	Intron			NP_000098.1
NM_001300734.1	1253	Intron			NP_001287663.1

Gene

NR1H3

Gene Name

nuclear receptor subfamily 1 group H member 3

There are no transcripts associated with this gene.

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