Product Details

SNP ID

rs146696981

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:201186003 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAGGATCTGCTGAGTGAGGAAGAC[A/C]CTTTCTTCCTGGCAGAACTCCTCTA

Phenotype

MIM: 601762

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CASP10 PubMed Links

Gene Details

Gene

CASP10

Gene Name

caspase 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001206524.1	644	Missense Mutation	ACT,CCT	T76P	NP_001193453.1
NM_001206542.1	644	Missense Mutation	ACT,CCT	T76P	NP_001193471.1
NM_001230.4	644	Missense Mutation	ACT,CCT	T76P	NP_001221.2
NM_001306083.1	644	Missense Mutation	ACT,CCT	T76P	NP_001293012.1
NM_032974.4	644	Missense Mutation	ACT,CCT	T76P	NP_116756.2
NM_032976.3	644	Missense Mutation	ACT,CCT	T76P	NP_116758.1
NM_032977.3	644	Missense Mutation	ACT,CCT	T76P	NP_116759.2
XM_005246907.2	644	Missense Mutation	ACT,CCT	T76P	XP_005246964.1
XM_006712796.3	644	UTR 5			XP_006712859.1
XM_011511990.2	644	Missense Mutation	ACT,CCT	T76P	XP_011510292.1

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