Product Details

SNP ID
rs149674816
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:1254948 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCAGCAGCAGTGCCAGTCCTGGTG[C/T]CAGCACCACGTCTACCCCAGGGGCC
Phenotype
MIM: 606700
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MIDN PubMed Links

Gene Details

Gene
MIDN
Gene Name
midnolin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_177401.4 1387 Missense Mutation GCC,GTC A248V NP_796375.3
XM_005259671.3 1387 Missense Mutation GCC,GTC A291V XP_005259728.1
XM_005259672.3 1387 Missense Mutation GCC,GTC A290V XP_005259729.1

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