Product Details

SNP ID
rs61757470
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:119894101 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAGATTCTTCCTGTCCAGTTTTTG[C/T]TTTAGATTCTTCCTGTACAGTTTTT
Phenotype
MIM: 604779
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ADAM30 PubMed Links

Gene Details

Gene
ADAM30
Gene Name
ADAM metallopeptidase domain 30
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_021794.3 2424 Missense Mutation ACA,GCA T746A NP_068566.2

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