Product Details

SNP ID

rs77644713

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:33859687 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGTATCGCATTGTCTTTGACATTA[A/C]CTTTTTCTTCTTCGTCATTGTCATC

Phenotype

MIM: 605265 MIM: 180903

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

AVEN PubMed Links

Gene Details

Gene

AVEN

Gene Name

apoptosis and caspase activation inhibitor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020371.2	14515	Intron			NP_065104.1
XM_011521818.2	14515	Intron			XP_011520120.1
XM_011521819.2	14515	Intron			XP_011520121.1
XM_011521820.1	14515	Intron			XP_011520122.1

Gene

RYR3

Gene Name

ryanodine receptor 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001036.4	14515	Missense Mutation	AAC,ACC	N4752T	NP_001027.3
NM_001243996.2	14515	Missense Mutation	AAC,ACC	N4747T	NP_001230925.1
XM_011521880.2	14515	Missense Mutation	AAC,ACC	N4741T	XP_011520182.1
XM_017022468.1	14515	Missense Mutation	AAC,ACC	N4748T	XP_016877957.1
XM_017022469.1	14515	Missense Mutation	AAC,ACC	N4747T	XP_016877958.1
XM_017022470.1	14515	Missense Mutation	AAC,ACC	N4747T	XP_016877959.1
XM_017022471.1	14515	Missense Mutation	AAC,ACC	N4747T	XP_016877960.1
XM_017022472.1	14515	Missense Mutation	AAC,ACC	N4746T	XP_016877961.1
XM_017022473.1	14515	Missense Mutation	AAC,ACC	N4742T	XP_016877962.1
XM_017022474.1	14515	Missense Mutation	AAC,ACC	N4741T	XP_016877963.1
XM_017022475.1	14515	Missense Mutation	AAC,ACC	N4719T	XP_016877964.1
XM_017022476.1	14515	Missense Mutation	AAC,ACC	N4712T	XP_016877965.1
XM_017022477.1	14515	Intron			XP_016877966.1

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