Product Details

SNP ID

rs200516692

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:961348 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTCGGCCCGCAGCCCCCATGGAG[A/G]GAGCCGTGCAGCTGCTGAGCCGCGA

Phenotype

MIM: 610770

Polymorphism

A/G, Transition 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	754	Missense Mutation	AGA,GGA	R55G	NP_938073.1
XM_006710600.3	754	Missense Mutation	AGA,GGA	R55G	XP_006710663.1
XM_006710601.3	754	Missense Mutation	AGA,GGA	R55G	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.

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