Product Details

SNP ID
rs188463838
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:11575186 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGGGGACCTTGCGCTGGTGCCGCT[C/T]TGAGGGGTCCATGAAATTCCCAGCC
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 1205 Missense Mutation AAG,GAG K268E NP_001104504.1
NM_001111035.2 1205 Missense Mutation AAG,GAG K268E NP_001104505.1
NM_001111036.2 1205 Missense Mutation AAG,GAG K268E NP_001104506.1
NM_001322023.1 1205 Missense Mutation AAG,GAG K268E NP_001308952.1
NM_001611.4 1205 Missense Mutation AAG,GAG K268E NP_001602.1
XM_005259938.1 1205 Missense Mutation AAG,GAG K268E XP_005259995.1
XM_011528069.2 1205 Missense Mutation AAG,GAG K268E 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 1205 Intron NP_001277012.1
NM_001290084.1 1205 Intron NP_001277013.1
NM_001290085.1 1205 Intron NP_001277014.1
NM_145295.3 1205 Intron NP_660338.1
XM_011527780.2 1205 Intron XP_011526082.1

View Full Product Details