Product Details

SNP ID

rs2229530

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:11576790 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTGGTCATGGTTTCCGGCTAGCAC[A/G]TACCAGGGCACTTTGCGAAGGGAGC

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	718	Silent Mutation	TAC,TAT	Y105Y	NP_001104504.1
NM_001111035.2	718	Silent Mutation	TAC,TAT	Y105Y	NP_001104505.1
NM_001111036.2	718	Silent Mutation	TAC,TAT	Y105Y	NP_001104506.1
NM_001322023.1	718	Silent Mutation	TAC,TAT	Y105Y	NP_001308952.1
NM_001611.4	718	Silent Mutation	TAC,TAT	Y105Y	NP_001602.1
XM_005259938.1	718	Silent Mutation	TAC,TAT	Y105Y	XP_005259995.1
XM_011528069.2	718	Silent Mutation	TAC,TAT	Y105Y	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	718	Intron			NP_001277012.1
NM_001290084.1	718	Intron			NP_001277013.1
NM_001290085.1	718	Intron			NP_001277014.1
NM_145295.3	718	Intron			NP_660338.1
XM_011527780.2	718	Intron			XP_011526082.1

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