Product Details

SNP ID
rs202169550
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:11576434 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTTGAGCCAGGACAGCTGTGTGC[A/G]GGCCAGCTTCACGTCTCGGGGCCTC
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_001111034.2 947 Missense Mutation CGC,TGC R182C NP_001104504.1
NM_001111035.2 947 Missense Mutation CGC,TGC R182C NP_001104505.1
NM_001111036.2 947 Missense Mutation CGC,TGC R182C NP_001104506.1
NM_001322023.1 947 Missense Mutation CGC,TGC R182C NP_001308952.1
NM_001611.4 947 Missense Mutation CGC,TGC R182C NP_001602.1
XM_005259938.1 947 Missense Mutation CGC,TGC R182C XP_005259995.1
XM_011528069.2 947 Missense Mutation CGC,TGC R182C 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_001290083.1 947 Intron NP_001277012.1
NM_001290084.1 947 Intron NP_001277013.1
NM_001290085.1 947 Intron NP_001277014.1
NM_145295.3 947 Intron NP_660338.1
XM_011527780.2 947 Intron XP_011526082.1

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