Product Details

SNP ID
rs78958817
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.4:74750599 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACAGCATGTGCAGACACCGATGAC[A/C]AAAATAATAAAAACTACCATAACTG
Phenotype
MIM: 600345
Polymorphism
A/C, Transversion Substitution
Allele Nomenclature
Literature Links
BTC PubMed Links

Gene Details

Gene
BTC
Gene Name
betacellulin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001316963.1 744 Intron NP_001303892.1
NM_001729.3 744 Missense Mutation TTG,TTT L134F NP_001720.1
XM_011532211.1 744 Missense Mutation TTG,TTT L134F XP_011530513.1
XM_017008568.1 744 Intron XP_016864057.1

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