Product Details

SNP ID
rs149172226
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:32015010 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCCTGCACTCGATGCCCCTTTATC[A/C]CCCCGACTACCTCATCGACCCCCAG
Phenotype
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CCM2L PubMed Links

Gene Details

Gene
CCM2L
Gene Name
CCM2 like scaffolding protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_080625.3 213 Missense Mutation CAC,CCC H46P NP_542192.2
XM_006723706.3 213 Missense Mutation CAC,CCC H46P XP_006723769.1
XM_011528566.1 213 Missense Mutation CAC,CCC H46P XP_011526868.1
XM_011528567.2 213 Missense Mutation CAC,CCC H39P XP_011526869.1
XM_011528568.2 213 Missense Mutation CAC,CCC H38P XP_011526870.1
XM_011528569.1 213 Missense Mutation CAC,CCC H46P XP_011526871.1

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