Product Details

SNP ID

rs199568695

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:965068 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCGAGAAGTACAACCCGAGGACCAA[A/C]AAGTGGGTGGCCGCATCCTGCATGT

Phenotype

MIM: 610770

Polymorphism

A/C, 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	2466	Missense Mutation	AAA,AAC	K602N	NP_938073.1
XM_006710600.3	2466	Missense Mutation	AAA,AAC	K625N	XP_006710663.1
XM_006710601.3	2466	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	2466	Intron			NP_001153656.1
NM_032129.2	2466	Intron			NP_115505.2
XM_006710944.3	2466	Intron			XP_006711007.2
XM_011542248.2	2466	Intron			XP_011540550.2
XM_017002474.1	2466	Intron			XP_016857963.1
XM_017002475.1	2466	Intron			XP_016857964.1
XM_017002476.1	2466	Intron			XP_016857965.1
XM_017002477.1	2466	Intron			XP_016857966.1
XM_017002478.1	2466	Intron			XP_016857967.1
XM_017002479.1	2466	Intron			XP_016857968.1

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