Product Details

SNP ID
rs143803280
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:100390370 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATATTTCAGCAAAACATCAGCTTCC[A/G]TTGGTTATTATAACAGATGTTCCCT
Phenotype
MIM: 603128
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SIM1 PubMed Links

Gene Details

Gene
SIM1
Gene Name
single-minded family bHLH transcription factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005068.2 3075 Silent Mutation NP_005059.2
XM_005267100.2 3075 Silent Mutation XP_005267157.1
XM_011536072.2 3075 Intron XP_011534374.1
XM_017011197.1 3075 Silent Mutation XP_016866686.1

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