Product Details

SNP ID

rs140119262

Assay Type

Functionally tested

NCBI dbSNP Submissions

7

Location

Chr.1:158937081 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGACTTGATGGAGGAAAAGTTCCC[A/G]GGTGATGCCGGTTTGGGCAAACTAA

Phenotype

MIM: 612677

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PYHIN1 PubMed Links

Gene Details

Gene

PYHIN1

Gene Name

pyrin and HIN domain family member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152501.4	421	Silent Mutation	CCA,CCG	P57P	NP_689714.2
NM_198928.4	421	Silent Mutation	CCA,CCG	P57P	NP_945146.1
NM_198929.4	421	Silent Mutation	CCA,CCG	P57P	NP_945147.1
NM_198930.3	421	Silent Mutation	CCA,CCG	P57P	NP_945148.1
XM_005244930.1	421	Silent Mutation	CCA,CCG	P57P	XP_005244987.1
XM_011509242.2	421	Silent Mutation	CCA,CCG	P57P	XP_011507544.1
XM_011509243.2	421	Silent Mutation	CCA,CCG	P57P	XP_011507545.1
XM_017000463.1	421	Silent Mutation	CCA,CCG	P57P	XP_016855952.1

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