Product Details

SNP ID

rs200114344

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:35560370 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGTGACATAGATGCCAAAACTCG[G/T]CGGCGGATCTTCGATGCTGTCGGCT

Phenotype

MIM: 613535 MIM: 608458

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

KIAA0319L PubMed Links

Gene Details

Gene

KIAA0319L

Gene Name

KIAA0319 like

There are no transcripts associated with this gene.

Gene

NCDN

Gene Name

neurochondrin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001014839.1	278	Silent Mutation	CGG,CGT	R73R	NP_001014839.1
NM_001014841.1	278	Silent Mutation	CGG,CGT	R56R	NP_001014841.1
NM_014284.2	278	Silent Mutation	CGG,CGT	R73R	NP_055099.1

View Full Product Details