Product Details

SNP ID
rs143647454
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:37740405 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACTTCGACCAGCGGCCCTGGTTTC[C/T]ATCTCATGCTCCCTTTCATCACATC
Phenotype
MIM: 611605
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ERLIN2 PubMed Links

Gene Details

Gene
ERLIN2
Gene Name
ER lipid raft associated 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001003790.3 261 Missense Mutation CAT,TAT H50Y NP_001003790.1
NM_001003791.2 261 Missense Mutation CAT,TAT H50Y NP_001003791.1
NM_007175.6 261 Missense Mutation CAT,TAT H50Y NP_009106.1
XM_005273392.2 261 Missense Mutation CAT,TAT H50Y XP_005273449.1
XM_006716280.2 261 UTR 5 XP_006716343.1
XM_017013000.1 261 Missense Mutation CAT,TAT H50Y XP_016868489.1
Gene
LOC101929622
Gene Name
uncharacterized LOC101929622
There are no transcripts associated with this gene.

Gene
LOC102723701
Gene Name
uncharacterized LOC102723701
There are no transcripts associated with this gene.

Gene
LOC728024
Gene Name
chromosome X open reading frame 56 pseudogene
There are no transcripts associated with this gene.

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