Product Details

SNP ID

rs28364550

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:42412809 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCCGTGAATATGCAGACAAGGTA[A/C]CGAAAGTAAACCGTCAATTAGTAAA

Phenotype

MIM: 114240

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CAPN3 PubMed Links

Gene Details

Gene

CAPN3

Gene Name

calpain 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000070.2	8066	Intron			NP_000061.1
NM_024344.1	8066	Intron			NP_077320.1
NM_173087.1	8066	Intron			NP_775110.1
NM_173088.1	8066	Intron			NP_775111.1
NM_173089.1	8066	Intron			NP_775112.1
NM_173090.1	8066	Intron			NP_775113.1

Gene

ZNF106

Gene Name

zinc finger protein 106

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001284306.1	8066	UTR 3			NP_001271235.1
NM_001284307.1	8066	UTR 3			NP_001271236.1
NM_022473.2	8066	UTR 3			NP_071918.1
XM_005254591.2	8066	Intron			XP_005254648.1
XM_005254592.2	8066	Intron			XP_005254649.1
XM_017022483.1	8066	Intron			XP_016877972.1
XM_017022484.1	8066	Intron			XP_016877973.1
XM_017022485.1	8066	Intron			XP_016877974.1

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