Product Details

SNP ID
rs200546996
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:67645060 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGGTCTCACCCTGGTTGAAGAGTT[C/T]GATGAAGTCCAGAACTGTGGCCACC
Phenotype
MIM: 614413 MIM: 604648
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ACY3 PubMed Links

Gene Details

Gene
ACY3
Gene Name
aminoacylase 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_080658.1 790 Missense Mutation NP_542389.1
XM_017018549.1 790 Nonsense Mutation XP_016874038.1
XM_017018550.1 790 Nonsense Mutation XP_016874039.1
XM_017018551.1 790 Missense Mutation XP_016874040.1
Gene
TBX10
Gene Name
T-box 10
There are no transcripts associated with this gene.

View Full Product Details