Product Details

SNP ID
rs118045574
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:44158854 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCACCGAGCTAGCCACCAGCATGCT[A/G]TACTCCCCAGGTAGGCACTCATGGG
Phenotype
MIM: 604822
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CAPN11 PubMed Links

Gene Details

Gene
CAPN11
Gene Name
calpain 11
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_007058.3 44 Silent Mutation CTA,CTG L2L NP_008989.2
XM_006714984.1 44 Silent Mutation CTA,CTG L2L XP_006715047.1
XM_006714985.1 44 Silent Mutation CTA,CTG L2L XP_006715048.1
XM_006714987.1 44 Silent Mutation CTA,CTG L2L XP_006715050.1
XM_011514274.1 44 Intron XP_011512576.1
XM_011514275.1 44 UTR 5 XP_011512577.1
Gene
TMEM63B
Gene Name
transmembrane protein 63B
There are no transcripts associated with this gene.

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