Product Details

SNP ID

rs201056424

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:6329795 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAACTCACTGTCTAGGCTCTGTGGC[C/T]TGTGGGCGCTGTCCTCCCACTTCTG

Phenotype

MIM: 611743 MIM: 191190

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PLEKHG6 PubMed Links

Gene Details

Gene

PLEKHG6

Gene Name

pleckstrin homology and RhoGEF domain containing G6

There are no transcripts associated with this gene.

Gene

TNFRSF1A

Gene Name

TNF receptor superfamily member 1A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001065.3	1343	Missense Mutation	AAG,AGG	K347R	NP_001056.1

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