Product Details

SNP ID

rs145303373

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:100104588 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCATCACAAGTCCATGCTGCTGCC[A/G]TTAATGGAGATAAGGGTGCTCTACA

Phenotype

MIM: 609170 MIM: 243305

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ERP44 PubMed Links

Gene Details

Gene

ERP44

Gene Name

endoplasmic reticulum protein 44

There are no transcripts associated with this gene.

Gene

INVS

Gene Name

inversin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318381.1	323	UTR 5			NP_001305310.1
NM_001318382.1	323	UTR 5			NP_001305311.1
NM_014425.4	323	Missense Mutation	ATT,GTT	I23V	NP_055240.2

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