Product Details

SNP ID
rs187725532
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:169754028 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCACAGACTGTGTGAGCTACACAGA[C/G]TCAGGTTTGTGCTGTCTTTGTACTC
Phenotype
MIM: 615532 MIM: 186977
Polymorphism
C/G, Transversion 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 1297 Missense Mutation GAC,GAG D57E NP_001265460.1
NM_001278532.1 1297 Intron NP_001265461.1
NM_001278533.1 1297 Missense Mutation GAC,GAG D57E NP_001265462.1
NM_018341.2 1297 Missense Mutation GAC,GAG D57E NP_060811.1
XM_011535938.2 1297 Missense Mutation GAC,GAG D57E XP_011534240.1
XM_011535939.2 1297 UTR 5 XP_011534241.1
XM_011535940.2 1297 UTR 5 XP_011534242.1
XM_017011027.1 1297 UTR 5 XP_016866516.1
XM_017011028.1 1297 UTR 5 XP_016866517.1
XM_017011029.1 1297 UTR 5 XP_016866518.1
XM_017011030.1 1297 Intron XP_016866519.1
XM_017011031.1 1297 UTR 5 XP_016866520.1
XM_017011032.1 1297 UTR 5 XP_016866521.1
XM_017011033.1 1297 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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