Product Details

SNP ID
rs149133430
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:11575023 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTCATGGGAGTTCAGGGCCTGGCT[C/T]GCCTCGGCAGCCTGGTCTTAAAGAG
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 1368 Missense Mutation CAA,CGA Q322R NP_001104504.1
NM_001111035.2 1368 Missense Mutation CAA,CGA Q322R NP_001104505.1
NM_001111036.2 1368 Missense Mutation CAA,CGA Q322R NP_001104506.1
NM_001322023.1 1368 Missense Mutation CAA,CGA Q322R NP_001308952.1
NM_001611.4 1368 Missense Mutation CAA,CGA Q322R NP_001602.1
XM_005259938.1 1368 Missense Mutation CAA,CGA Q322R XP_005259995.1
XM_011528069.2 1368 Missense Mutation CAA,CGA Q322R 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 1368 Intron NP_001277012.1
NM_001290084.1 1368 Intron NP_001277013.1
NM_001290085.1 1368 Intron NP_001277014.1
NM_145295.3 1368 Intron NP_660338.1
XM_011527780.2 1368 Intron XP_011526082.1

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