Product Details

SNP ID

rs13302996

Assay Type

Functionally tested

NCBI dbSNP Submissions

38

Location

Chr.1:966227 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACAGGATGTGTGGGCACGTTGTCC[C/G]GGGGGGCCTGGAAGGTCGCCCCGGG

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198317.2	408	Intron			NP_938073.1
XM_006710600.3	408	Intron			XP_006710663.1
XM_006710601.3	408	Intron			XP_006710664.1

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	408	Intron			NP_001153656.1
NM_032129.2	408	Intron			NP_115505.2
XM_006710944.3	408	Missense Mutation	CCG,CGG	P7R	XP_006711007.2
XM_011542248.2	408	Missense Mutation	CCG,CGG	P7R	XP_011540550.2
XM_017002474.1	408	Missense Mutation	CCG,CGG	P7R	XP_016857963.1
XM_017002475.1	408	Missense Mutation	CCG,CGG	P7R	XP_016857964.1
XM_017002476.1	408	Missense Mutation	CCG,CGG	P7R	XP_016857965.1
XM_017002477.1	408	Missense Mutation	CCG,CGG	P7R	XP_016857966.1
XM_017002478.1	408	Missense Mutation	CCG,CGG	P7R	XP_016857967.1
XM_017002479.1	408	Missense Mutation	CCG,CGG	P7R	XP_016857968.1

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