Product Details

SNP ID
rs148219285
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:11576789 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGTGGTCATGGTTTCCGGCTAGCA[C/T]GTACCAGGGCACTTTGCGAAGGGAG
Phenotype
MIM: 171640 MIM: 612248
Polymorphism
C/T, 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_001111034.2 719 Missense Mutation ATG,GTG M106V NP_001104504.1
NM_001111035.2 719 Missense Mutation ATG,GTG M106V NP_001104505.1
NM_001111036.2 719 Missense Mutation ATG,GTG M106V NP_001104506.1
NM_001322023.1 719 Missense Mutation ATG,GTG M106V NP_001308952.1
NM_001611.4 719 Missense Mutation ATG,GTG M106V NP_001602.1
XM_005259938.1 719 Missense Mutation ATG,GTG M106V XP_005259995.1
XM_011528069.2 719 Missense Mutation ATG,GTG M106V 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_001290083.1 719 Intron NP_001277012.1
NM_001290084.1 719 Intron NP_001277013.1
NM_001290085.1 719 Intron NP_001277014.1
NM_145295.3 719 Intron NP_660338.1
XM_011527780.2 719 Intron XP_011526082.1

View Full Product Details