Product Details

SNP ID
rs146045891
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:71629399 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTCGGAGAGATATCTGCCCTCGA[C/T]CCCCAGGCCTGGACGAGAGGAGGTG
Phenotype
MIM: 614094
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MARVELD3 PubMed Links

Gene Details

Gene
MARVELD3
Gene Name
MARVEL domain containing 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001017967.3 414 Missense Mutation ACC,ATC T167I NP_001017967.2
NM_001271329.1 414 Missense Mutation CCC,TCC P113S NP_001258258.1
NM_052858.5 414 Missense Mutation ACC,ATC T167I NP_443090.4
XM_011523449.2 414 Missense Mutation ACC,ATC T167I XP_011521751.1

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