Product Details

SNP ID
rs140671661
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:161306370 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGCCGCCTGCCTGCGTAGCCAGCA[C/G]TACCGAACCACGTAGAAAAGCAGCA
Phenotype
MIM: 159440 MIM: 602413
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
MPZ PubMed Links

Gene Details

Gene
MPZ
Gene Name
myelin protein zero
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000530.7 607 Silent Mutation TAC,TAT Y181Y NP_000521.2
NM_001315491.1 607 Silent Mutation TAC,TAT Y181Y NP_001302420.1
XM_017001321.1 607 Silent Mutation TAC,TAT Y191Y XP_016856810.1
Gene
SDHC
Gene Name
succinate dehydrogenase complex subunit C
There are no transcripts associated with this gene.

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