Product Details

SNP ID

rs147002397

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:643265 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGAGATCCGCTCTGTACACGTGG[G/T]CGTCGTGGTCATCAAAGCAGTGTCC

Phenotype

MIM: 605831 MIM: 601778 MIM: 615177

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

FGF22 PubMed Links

Gene Details

Gene

FGF22

Gene Name

fibroblast growth factor 22

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001300812.1	276	Missense Mutation	GGC,GTC	G82V	NP_001287741.1
NM_020637.1	276	Missense Mutation	GGC,GTC	G82V	NP_065688.1

Gene

POLRMT

Gene Name

RNA polymerase mitochondrial

There are no transcripts associated with this gene.

Gene

RNF126

Gene Name

ring finger protein 126

There are no transcripts associated with this gene.

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