Product Details

SNP ID

rs199986980

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:11575183 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGTTGGGGACCTTGCGCTGGTGCC[A/G]CTTTGAGGGGTCCATGAAATTCCCA

Phenotype

MIM: 171640 MIM: 612248

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ACP5 PubMed Links

Gene Details

Gene

ACP5

Gene Name

acid phosphatase 5, tartrate resistant

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001111034.2	1208	Missense Mutation	CGG,TGG	R269W	NP_001104504.1
NM_001111035.2	1208	Missense Mutation	CGG,TGG	R269W	NP_001104505.1
NM_001111036.2	1208	Missense Mutation	CGG,TGG	R269W	NP_001104506.1
NM_001322023.1	1208	Missense Mutation	CGG,TGG	R269W	NP_001308952.1
NM_001611.4	1208	Missense Mutation	CGG,TGG	R269W	NP_001602.1
XM_005259938.1	1208	Missense Mutation	CGG,TGG	R269W	XP_005259995.1
XM_011528069.2	1208	Missense Mutation	CGG,TGG	R269W	XP_011526371.1

Gene

ZNF627

Gene Name

zinc finger protein 627

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001290083.1	1208	Intron			NP_001277012.1
NM_001290084.1	1208	Intron			NP_001277013.1
NM_001290085.1	1208	Intron			NP_001277014.1
NM_145295.3	1208	Intron			NP_660338.1
XM_011527780.2	1208	Intron			XP_011526082.1

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