Product Details

SNP ID
rs144398588
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:47834474 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACTGTCCGCCTGGACCGGGAGGGG[A/T]TTACTACTATCAGGAACTTAGAAGG
Phenotype
MIM: 611825 MIM: 614966
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
LRRC46 PubMed Links

Gene Details

Gene
LRRC46
Gene Name
leucine rich repeat containing 46
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_033413.3 529 Missense Mutation ATT,TTT I56F NP_219481.1
XM_005257775.4 529 Missense Mutation ATT,TTT I65F XP_005257832.1
Gene
MRPL10
Gene Name
mitochondrial ribosomal protein L10
There are no transcripts associated with this gene.

Gene
SCRN2
Gene Name
secernin 2
There are no transcripts associated with this gene.

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