Product Details

SNP ID

rs79148472

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:37765583 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTCAGCAAAACCAAACCTGCAGAC[A/G]TGGTGATCGAGGCCTATGGACATGG

Phenotype

MIM: 611605 MIM: 604436

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ERLIN2 PubMed Links

Gene Details

Gene

ERLIN2

Gene Name

ER lipid raft associated 2

There are no transcripts associated with this gene.

Gene

PROSC

Gene Name

proline synthetase cotranscribed homolog (bacterial)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007198.3	1064	Missense Mutation	ATG,GTG	M53V	NP_009129.1
XM_017013001.1	1064	Missense Mutation	ATG,GTG	M88V	XP_016868490.1

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