Product Details

SNP ID

rs145109964

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:81845187 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCCTGGCCACCGCTCTCCAGGAAT[G/T]TCTTAAAACCATCCAGCGTGCGTTC

Phenotype

MIM: 176790

Polymorphism

G/T, Transversion 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	1600	Missense Mutation	AAA,ACA	K468T	NP_000909.2

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