Product Details

SNP ID

rs79305633

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:33859700 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTTGACATTACCTTTTTCTTCTT[C/T]GTCATTGTCATCTTGCTGGCCATCA

Phenotype

MIM: 605265 MIM: 180903

Polymorphism

C/T, Transition 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	14528	Intron			NP_065104.1
XM_011521818.2	14528	Intron			XP_011520120.1
XM_011521819.2	14528	Intron			XP_011520121.1
XM_011521820.1	14528	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	14528	Silent Mutation	TTC,TTT	F4756F	NP_001027.3
NM_001243996.2	14528	Silent Mutation	TTC,TTT	F4751F	NP_001230925.1
XM_011521880.2	14528	Silent Mutation	TTC,TTT	F4745F	XP_011520182.1
XM_017022468.1	14528	Silent Mutation	TTC,TTT	F4752F	XP_016877957.1
XM_017022469.1	14528	Silent Mutation	TTC,TTT	F4751F	XP_016877958.1
XM_017022470.1	14528	Silent Mutation	TTC,TTT	F4751F	XP_016877959.1
XM_017022471.1	14528	Silent Mutation	TTC,TTT	F4751F	XP_016877960.1
XM_017022472.1	14528	Silent Mutation	TTC,TTT	F4750F	XP_016877961.1
XM_017022473.1	14528	Silent Mutation	TTC,TTT	F4746F	XP_016877962.1
XM_017022474.1	14528	Silent Mutation	TTC,TTT	F4745F	XP_016877963.1
XM_017022475.1	14528	Silent Mutation	TTC,TTT	F4723F	XP_016877964.1
XM_017022476.1	14528	Silent Mutation	TTC,TTT	F4716F	XP_016877965.1
XM_017022477.1	14528	Intron			XP_016877966.1

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