Product Details

SNP ID

rs112254662

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:28748063 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCAATGTCATTCCCTGCCCTAATC[A/G]CTGCCCCATGAAGCTGAGCCGCCGT

Phenotype

MIM: 609799 MIM: 602464

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FAM222B PubMed Links

Gene Details

Gene

FAM222B

Gene Name

family with sequence similarity 222 member B

There are no transcripts associated with this gene.

Gene

NEK8

Gene Name

NIMA related kinase 8

There are no transcripts associated with this gene.

Gene

TRAF4

Gene Name

TNF receptor associated factor 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004295.3	478	Missense Mutation	CAC,CGC	H116R	NP_004286.2
XM_011525504.2	478	Missense Mutation	CAC,CGC	H123R	XP_011523806.1
XM_011525505.2	478	Missense Mutation	CAC,CGC	H107R	XP_011523807.1
XM_011525506.2	478	Missense Mutation	CAC,CGC	H100R	XP_011523808.1
XM_011525507.2	478	UTR 5			XP_011523809.1
XM_011525508.2	478	UTR 5			XP_011523810.1

View Full Product Details