Product Details

SNP ID

rs139294873

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:37762705 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCGGCCGAGCTGGGAGTCGGGTGC[G/T]CATTGCGGGCGGTGAACGAGCGCGT

Phenotype

MIM: 611605 MIM: 604436

Polymorphism

G/T, Transversion 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	953	Missense Mutation	GCA,TCA	A16S	NP_009129.1
XM_017013001.1	953	Missense Mutation	GCA,TCA	A51S	XP_016868490.1

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