Product Details

SNP ID

rs201716955

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:11576557 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACACATTGGTCTGTGGGATCTTGA[A/C]GTGCAGGCGGTAGAAAGGGCTGGGG

Phenotype

MIM: 171640 MIM: 612248

Polymorphism

A/C, Transversion 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	824	Missense Mutation	GTC,TTC	V141F	NP_001104504.1
NM_001111035.2	824	Missense Mutation	GTC,TTC	V141F	NP_001104505.1
NM_001111036.2	824	Missense Mutation	GTC,TTC	V141F	NP_001104506.1
NM_001322023.1	824	Missense Mutation	GTC,TTC	V141F	NP_001308952.1
NM_001611.4	824	Missense Mutation	GTC,TTC	V141F	NP_001602.1
XM_005259938.1	824	Missense Mutation	GTC,TTC	V141F	XP_005259995.1
XM_011528069.2	824	Missense Mutation	GTC,TTC	V141F	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	824	Intron			NP_001277012.1
NM_001290084.1	824	Intron			NP_001277013.1
NM_001290085.1	824	Intron			NP_001277014.1
NM_145295.3	824	Intron			NP_660338.1
XM_011527780.2	824	Intron			XP_011526082.1

View Full Product Details