Product Details

SNP ID
rs76909887
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:56232789 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAGTCAAAGGCCCCTCACCTACCC[C/T]GTGGGCCAGCCCCCTCGGGCCTGGA
Phenotype
MIM: 612104 MIM: 608730
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ANKRD52 PubMed Links

Gene Details

Gene
ANKRD52
Gene Name
ankyrin repeat domain 52
There are no transcripts associated with this gene.

Gene
NABP2
Gene Name
nucleic acid binding protein 2
There are no transcripts associated with this gene.

Gene
SLC39A5
Gene Name
solute carrier family 39 member 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135195.1 576 Missense Mutation CGT,TGT R130C NP_001128667.1
NM_173596.2 576 Missense Mutation CGT,TGT R130C NP_775867.2
XM_005268803.1 576 Missense Mutation CGT,TGT R130C XP_005268860.1
XM_011538198.1 576 Missense Mutation CGT,TGT R130C XP_011536500.1
XM_011538199.1 576 Missense Mutation CGT,TGT R130C XP_011536501.1
XM_011538200.1 576 Missense Mutation CGT,TGT R130C XP_011536502.1
XM_011538201.1 576 Missense Mutation CGT,TGT R130C XP_011536503.1
XM_017019185.1 576 Missense Mutation CGT,TGT R130C XP_016874674.1
XM_017019186.1 576 UTR 5 XP_016874675.1
XM_017019187.1 576 UTR 5 XP_016874676.1

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