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SNP ID: rs140019196
Assay Type: Functionally tested
NCBI dbSNP Submissions: 9
Location: Chr.1:965139 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGTGTGGCGGTGCTGGAGCTGCTCA[A/G]TTTCCCGCCGCCATCCTCCCCGACG
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	2537	Missense Mutation	AAT,AGT	N626S	NP_938073.1
XM_006710600.3	2537	Missense Mutation	AAT,AGT	N649S	XP_006710663.1
XM_006710601.3	2537	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	2537	Intron			NP_001153656.1
NM_032129.2	2537	Intron			NP_115505.2
XM_006710944.3	2537	Intron			XP_006711007.2
XM_011542248.2	2537	Intron			XP_011540550.2
XM_017002474.1	2537	Intron			XP_016857963.1
XM_017002475.1	2537	Intron			XP_016857964.1
XM_017002476.1	2537	Intron			XP_016857965.1
XM_017002477.1	2537	Intron			XP_016857966.1
XM_017002478.1	2537	Intron			XP_016857967.1
XM_017002479.1	2537	Intron			XP_016857968.1

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