Product Details

SNP ID
rs17853403
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:70979700 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACTTCGCCGCCCAATGGGGCAAG[A/C]TTGCATGCCTGCAGGTCCTGGTAGA
Phenotype
MIM: 617009
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
ANKRD53 PubMed Links

Gene Details

Gene
ANKRD53
Gene Name
ankyrin repeat domain 53
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001115116.1 494 Missense Mutation ATT,CTT I153L NP_001108588.1
NM_024933.3 494 Missense Mutation ATT,CTT I153L NP_079209.3
XM_005264569.4 494 Missense Mutation ATT,CTT I119L XP_005264626.1
XM_011533114.2 494 Missense Mutation ATT,CTT I153L XP_011531416.1
Gene
TEX261
Gene Name
testis expressed 261
There are no transcripts associated with this gene.

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