Product Details

SNP ID

rs199927668

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:6616847 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGGCCTATGCTGGCTACATCCCT[C/T]ATCCGAAGGAGGTAATCTTCTGAGT

Phenotype

MIM: 612532

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PHF13 PubMed Links

Gene Details

Gene

PHF13

Gene Name

PHD finger protein 13

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_153812.2	501	Missense Mutation	CAT,TAT	H44Y	NP_722519.2
XM_011540762.1	501	Missense Mutation	CAT,TAT	H53Y	XP_011539064.1

Gene

THAP3

Gene Name

THAP domain containing 3

There are no transcripts associated with this gene.

View Full Product Details