Product Details

SNP ID
rs142642959
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:169755385 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGACCAAGGGGCAATTTGAAATTC[A/G]ATATGCACCGTGGTTCCAGTGGACA
Phenotype
MIM: 615532 MIM: 186977
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ERMARD PubMed Links

Gene Details

Gene
ERMARD
Gene Name
ER membrane associated RNA degradation
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278531.1 1399 Missense Mutation CAA,CGA Q93R NP_001265460.1
NM_001278532.1 1399 UTR 5 NP_001265461.1
NM_001278533.1 1399 Missense Mutation CAA,CGA Q93R NP_001265462.1
NM_018341.2 1399 Missense Mutation CAA,CGA Q93R NP_060811.1
XM_011535938.2 1399 Missense Mutation CAA,CGA Q93R XP_011534240.1
XM_011535939.2 1399 UTR 5 XP_011534241.1
XM_011535940.2 1399 UTR 5 XP_011534242.1
XM_017011027.1 1399 UTR 5 XP_016866516.1
XM_017011028.1 1399 UTR 5 XP_016866517.1
XM_017011029.1 1399 UTR 5 XP_016866518.1
XM_017011030.1 1399 UTR 5 XP_016866519.1
XM_017011031.1 1399 UTR 5 XP_016866520.1
XM_017011032.1 1399 UTR 5 XP_016866521.1
XM_017011033.1 1399 UTR 5 XP_016866522.1
Gene
TCTE3
Gene Name
t-complex-associated-testis-expressed 3
There are no transcripts associated with this gene.

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