Product Details

SNP ID
rs117625520
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:94498157 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGAGTATACCCCTCTTCATCGAGC[A/T]GCCTACAGTGGACACTTAGATATTG
Phenotype
MIM: 600814
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
ANKRD49 PubMed Links

Gene Details

Gene
ANKRD49
Gene Name
ankyrin repeat domain 49
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017704.2 529 Silent Mutation GCA,GCT A115A NP_060174.2
XM_017017941.1 529 Silent Mutation GCA,GCT A115A XP_016873430.1
Gene
MRE11A
Gene Name
MRE11 homolog A, double strand break repair nuclease
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005590.3 529 Intron NP_005581.2
NM_005591.3 529 Intron NP_005582.1
XM_005274008.3 529 Intron XP_005274065.1
XM_006718842.3 529 Intron XP_006718905.1
XM_011542837.2 529 Intron XP_011541139.1
XM_017017772.1 529 Intron XP_016873261.1
XM_017017773.1 529 Intron XP_016873262.1

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