Product Details

SNP ID

rs147009675

Assay Type

Functionally Tested

NCBI dbSNP Submissions

3

Location

Chr.1:965056 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTCAACTCCATCGAGAAGTACAA[C/T]CCGAGGACCAACAAGTGGGTGGCCG

Phenotype

MIM: 610770

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

KLHL17 PubMed Links

Additional Information

For this assay, SNP(s) [rs115741058] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	2454	Silent Mutation	AAC,AAT	N598N	NP_938073.1
XM_006710600.3	2454	Silent Mutation	AAC,AAT	N621N	XP_006710663.1
XM_006710601.3	2454	Intron			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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001160184.1	2454	Intron			NP_001153656.1
NM_032129.2	2454	Intron			NP_115505.2
XM_006710944.3	2454	Intron			XP_006711007.2
XM_011542248.2	2454	Intron			XP_011540550.2
XM_017002474.1	2454	Intron			XP_016857963.1
XM_017002475.1	2454	Intron			XP_016857964.1
XM_017002476.1	2454	Intron			XP_016857965.1
XM_017002477.1	2454	Intron			XP_016857966.1
XM_017002478.1	2454	Intron			XP_016857967.1
XM_017002479.1	2454	Intron			XP_016857968.1

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