Product Details

SNP ID

rs199555395

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:223784216 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCTGTGGATGATTGTCATGCAGT[C/T]TCCTTCTTTCATGGGCAGCTCATCA

Phenotype

MIM: 114230 MIM: 602143

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CAPN2 PubMed Links

Gene Details

Gene

CAPN2

Gene Name

calpain 2

There are no transcripts associated with this gene.

Gene

TP53BP2

Gene Name

tumor protein p53 binding protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001031685.2	3554	Missense Mutation	AAC,GAC	N1088D	NP_001026855.2
NM_005426.2	3554	Missense Mutation	AAC,GAC	N959D	NP_005417.1
XM_011544268.1	3554	Missense Mutation	AAC,GAC	N1021D	XP_011542570.1
XM_011544269.2	3554	Missense Mutation	AAC,GAC	N959D	XP_011542571.1
XM_017002220.1	3554	Missense Mutation	AAC,GAC	N1021D	XP_016857709.1

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