Product Details

SNP ID
rs139191413
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:67633042 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGGCATAGCGCTCACTGTCCTTG[C/T]GTGGGTCCACGAAGACCACGTGGAA
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
There are no transcripts associated with this gene.

Gene
NUDT8
Gene Name
nudix hydrolase 8
There are no transcripts associated with this gene.

Gene
TBX10
Gene Name
T-box 10
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005995.4 989 Missense Mutation CAC,CGC H204R NP_005986.2
XM_011544992.2 989 Missense Mutation CAC,CGC H249R XP_011543294.1
XM_011544993.1 989 Missense Mutation CAC,CGC H43R XP_011543295.1

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