Product Details

SNP ID

rs202165740

Assay Type

Functionally tested

NCBI dbSNP Submissions

11

Location

Chr.1:966753 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGCCTGCCGGGCCCCGAGGCTGCT[C/G]GAAGCGGGGACGCCGCCGCCAACAA

Phenotype

MIM: 610770 MIM: 615921

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

KLHL17 PubMed Links

Gene Details

Gene

KLHL17

Gene Name

kelch like family member 17

There are no transcripts associated with this gene.

Gene

NOC2L

Gene Name

NOC2 like nucleolar associated transcriptional repressor

There are no transcripts associated with this gene.

Gene

PERM1

Gene Name

PPARGC1 and ESRR induced regulator, muscle 1

There are no transcripts associated with this gene.

Gene

PLEKHN1

Gene Name

pleckstrin homology domain containing N1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001160184.1	845	Missense Mutation	CGA,GGA	R45G	NP_001153656.1
NM_032129.2	845	Missense Mutation	CGA,GGA	R45G	NP_115505.2
XM_006710944.3	845	Missense Mutation	CGA,GGA	R153G	XP_006711007.2
XM_011542248.2	845	Missense Mutation	CGA,GGA	R153G	XP_011540550.2
XM_017002474.1	845	Missense Mutation	CGA,GGA	R153G	XP_016857963.1
XM_017002475.1	845	Missense Mutation	CGA,GGA	R153G	XP_016857964.1
XM_017002476.1	845	Missense Mutation	CGA,GGA	R153G	XP_016857965.1
XM_017002477.1	845	Missense Mutation	CGA,GGA	R153G	XP_016857966.1
XM_017002478.1	845	Missense Mutation	CGA,GGA	R153G	XP_016857967.1
XM_017002479.1	845	Missense Mutation	CGA,GGA	R153G	XP_016857968.1

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