Product Details

SNP ID
rs146516646
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:141224487 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATGTGATATTTTTATATGTTACAG[A/G]AATGTGACAAGTGTCAGAGGTAAAT
Phenotype
MIM: 609550
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ZNF330 PubMed Links

Gene Details

Gene
ZNF330
Gene Name
zinc finger protein 330
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001292002.1 349 Nonsense Mutation TGA,TGG *4W NP_001278931.1
NM_014487.5 349 Missense Mutation AAA,GAA K41E NP_055302.1
XM_017008033.1 349 Missense Mutation AAA,GAA K41E XP_016863522.1

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