Product Details

SNP ID

rs147544712

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:120905181 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGAAGGACGCTGAGCTTAGGTCAG[G/T]CCGGAAGGCGTCAATGGCGTGCTCA

Phenotype

MIM: 609740 MIM: 601711

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

PHF19 PubMed Links

Gene Details

Gene

PHF19

Gene Name

PHD finger protein 19

There are no transcripts associated with this gene.

Gene

TRAF1

Gene Name

TNF receptor associated factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001190945.1	1515	Missense Mutation	ACT,CCT	T364P	NP_001177874.1
NM_001190947.1	1515	Missense Mutation	ACT,CCT	T242P	NP_001177876.1
NM_005658.4	1515	Missense Mutation	ACT,CCT	T364P	NP_005649.1

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