Product Details

SNP ID

rs145419216

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:11576517 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCACATAGTGTCACTGTGTCCAGC[A/G]TAAAAATGGCCACAGACACATTGGT

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	864	Missense Mutation	ACG,ATG	T154M	NP_001104504.1
NM_001111035.2	864	Missense Mutation	ACG,ATG	T154M	NP_001104505.1
NM_001111036.2	864	Missense Mutation	ACG,ATG	T154M	NP_001104506.1
NM_001322023.1	864	Missense Mutation	ACG,ATG	T154M	NP_001308952.1
NM_001611.4	864	Missense Mutation	ACG,ATG	T154M	NP_001602.1
XM_005259938.1	864	Missense Mutation	ACG,ATG	T154M	XP_005259995.1
XM_011528069.2	864	Missense Mutation	ACG,ATG	T154M	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	864	Intron			NP_001277012.1
NM_001290084.1	864	Intron			NP_001277013.1
NM_001290085.1	864	Intron			NP_001277014.1
NM_145295.3	864	Intron			NP_660338.1
XM_011527780.2	864	Intron			XP_011526082.1

View Full Product Details