Product Details

SNP ID

rs1130114

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:136255966 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGCAGATTTTGGAATGGCTGCTGA[C/T]AAGAATAAGGTATTTGTTCAAATGG

Phenotype

MIM: 232050

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PCCB PubMed Links

Gene Details

Gene

PCCB

Gene Name

propionyl-CoA carboxylase beta subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000532.4	345	Silent Mutation	GAC,GAT	D98D	NP_000523.2
NM_001178014.1	345	Silent Mutation	GAC,GAT	D98D	NP_001171485.1
XM_011512873.1	345	Silent Mutation	GAC,GAT	D98D	XP_011511175.1

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