Product Details

SNP ID

rs201852386

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:81844025 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCTTTGCGTATTACAGTTCATCT[C/T]TCACAGCTTTCTGATCATCGTCTTC

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	1711	Missense Mutation	AAA,AGA	K505R	NP_000909.2

Gene

PPP1R27

Gene Name

protein phosphatase 1 regulatory subunit 27

There are no transcripts associated with this gene.

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