Product Details

SNP ID

rs183304201

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:34084386 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTGTTTTACTGCTGCCGCTGCTA[A/G]ATTTGCCAGATGATTTTGAAGAGAA

Phenotype

MIM: 605265

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AVEN PubMed Links

Gene Details

Gene

AVEN

Gene Name

apoptosis and caspase activation inhibitor

There are no transcripts associated with this gene.

Gene

EMC7

Gene Name

ER membrane protein complex subunit 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020154.2	690	Missense Mutation	TCT,TTT	S226F	NP_064539.1

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