Product Details

SNP ID
rs201149780
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:154477820 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGCGGTGGCGGCTGCAGCGGCCGC[C/G]GGCGGCGGCCCGCCCGCAGGGAAGT
Phenotype
MIM: 602406
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
HAND1 PubMed Links

Gene Details

Gene
HAND1
Gene Name
heart and neural crest derivatives expressed 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004821.2 390 Silent Mutation CCC,CCG P63P NP_004812.1
XM_005268531.1 390 Silent Mutation CCC,CCG P63P XP_005268588.1

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