Product Details

SNP ID
rs781050795
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:11576780 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACATTGCCAAGGTGGTCATGGTTTC[C/T]GGCTAGCACGTACCAGGGCACTTTG
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_001111034.2 728 Missense Mutation AGA,GGA R109G NP_001104504.1
NM_001111035.2 728 Missense Mutation AGA,GGA R109G NP_001104505.1
NM_001111036.2 728 Missense Mutation AGA,GGA R109G NP_001104506.1
NM_001322023.1 728 Missense Mutation AGA,GGA R109G NP_001308952.1
NM_001611.4 728 Missense Mutation AGA,GGA R109G NP_001602.1
XM_005259938.1 728 Missense Mutation AGA,GGA R109G XP_005259995.1
XM_011528069.2 728 Missense Mutation AGA,GGA R109G 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_001290083.1 728 Intron NP_001277012.1
NM_001290084.1 728 Intron NP_001277013.1
NM_001290085.1 728 Intron NP_001277014.1
NM_145295.3 728 Intron NP_660338.1
XM_011527780.2 728 Intron XP_011526082.1

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