Product Details

SNP ID

rs138932612

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:81845190 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGCCACCGCTCTCCAGGAATTTC[C/T]TAAAACCATCCAGCGTGCGTTCCCC

Phenotype

MIM: 176790

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

P4HB PubMed Links

Gene Details

Gene

P4HB

Gene Name

prolyl 4-hydroxylase subunit beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000918.3	1597	Missense Mutation	AAG,AGG	K467R	NP_000909.2

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