Product Details

SNP ID

rs4970441

Assay Type

Functionally tested

NCBI dbSNP Submissions

57

Location

Chr.1:961945 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGTATCCGGGGCTTTGCCGATGC[C/G]CACTCCTGCAGCGACCTGCTCAAGG

Phenotype

MIM: 610770

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

KLHL17 PubMed Links

Gene Details

Gene

KLHL17

Gene Name

kelch like family member 17

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198317.2	1200	Silent Mutation	GCC,GCG	A203A	NP_938073.1
XM_006710600.3	1200	Silent Mutation	GCC,GCG	A203A	XP_006710663.1
XM_006710601.3	1200	Silent Mutation	GCC,GCG	A203A	XP_006710664.1

Gene

NOC2L

Gene Name

NOC2 like nucleolar associated transcriptional repressor

There are no transcripts associated with this gene.

Gene

PLEKHN1

Gene Name

pleckstrin homology domain containing N1

There are no transcripts associated with this gene.

View Full Product Details