Product Details

SNP ID
rs147171521
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:41921597 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCAAGGCGGCCCGTGGGGTGGGGG[A/G]TCAGGAAAAACATGCGCCCCTGGCC
Phenotype
MIM: 603871 MIM: 612915
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
BYSL PubMed Links

Gene Details

Gene
BYSL
Gene Name
bystin like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004053.3 371 Missense Mutation GAT,GGT D12G NP_004044.3
Gene
MED20
Gene Name
mediator complex subunit 20
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001305455.1 371 Intron NP_001292384.1
NM_001305456.1 371 Intron NP_001292385.1
NM_001305457.1 371 Intron NP_001292386.1
NM_004275.4 371 Intron NP_004266.2

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