Product Details

SNP ID

rs112136447

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:21395970 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGACGCCGCCGCTGTACTCCCCGG[C/G]GGCCGCGTCCAGGGCCGCCAGGCCG

Phenotype

MIM: 607808 MIM: 608851

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

NKX2-4 PubMed Links

Gene Details

Gene

NKX2-4

Gene Name

NK2 homeobox 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_033176.1	1016	Missense Mutation	CCC,GCC	P336A	NP_149416.1

Gene

XRN2

Gene Name

5'-3' exoribonuclease 2

There are no transcripts associated with this gene.

View Full Product Details