Product Details

SNP ID
rs192142123
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:1281502 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACCCCCTGCACCGGGCCAGCGAGG[A/G]GATGGCCCAGAAGAGGGGGAGGACC
Phenotype
MIM: 601328
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SCNN1D PubMed Links

Gene Details

Gene
SCNN1D
Gene Name
sodium channel epithelial 1 delta subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130413.3 440 Missense Mutation AGA,GGA R57G NP_001123885.2
XM_011541899.2 440 Missense Mutation AGA,GGA R101G XP_011540201.1
XM_011541901.2 440 Missense Mutation AGA,GGA R65G XP_011540203.1
XM_011541902.2 440 Missense Mutation AGA,GGA R57G XP_011540204.1
XM_011541905.2 440 Missense Mutation AGA,GGA R33G XP_011540207.1
XM_011541906.2 440 Missense Mutation AGA,GGA R101G XP_011540208.1
XM_011541908.2 440 Intron XP_011540210.1
XM_011541920.2 440 Intron XP_011540222.1
XM_011541925.2 440 Intron XP_011540227.1
XM_011541929.2 440 Intron XP_011540231.1
XM_011541932.2 440 Intron XP_011540234.1
XM_011541933.2 440 Intron XP_011540235.1
XM_017002037.1 440 Missense Mutation AGA,GGA R101G XP_016857526.1
XM_017002038.1 440 Missense Mutation AGA,GGA R101G XP_016857527.1
XM_017002039.1 440 Missense Mutation AGA,GGA R65G XP_016857528.1
XM_017002040.1 440 Intron XP_016857529.1
XM_017002041.1 440 Intron XP_016857530.1
XM_017002042.1 440 Intron XP_016857531.1
XM_017002043.1 440 Intron XP_016857532.1
XM_017002044.1 440 Intron XP_016857533.1
Gene
UBE2J2
Gene Name
ubiquitin conjugating enzyme E2 J2
There are no transcripts associated with this gene.

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