Product Details

SNP ID
rs142898449
Assay Type
Functionally Tested
NCBI dbSNP Submissions
4
Location
Chr.1:965005 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGCCATGGACGGATGGTTGTACGC[C/T]GTGGGGGGTAACGACGGTAGCTCCA
Phenotype
MIM: 610770
Polymorphism
C/T, 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 2403 Silent Mutation GCC,GCT A581A NP_938073.1
XM_006710600.3 2403 Silent Mutation GCC,GCT A604A XP_006710663.1
XM_006710601.3 2403 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 2403 Intron NP_001153656.1
NM_032129.2 2403 Intron NP_115505.2
XM_006710944.3 2403 Intron XP_006711007.2
XM_011542248.2 2403 Intron XP_011540550.2
XM_017002474.1 2403 Intron XP_016857963.1
XM_017002475.1 2403 Intron XP_016857964.1
XM_017002476.1 2403 Intron XP_016857965.1
XM_017002477.1 2403 Intron XP_016857966.1
XM_017002478.1 2403 Intron XP_016857967.1
XM_017002479.1 2403 Intron XP_016857968.1

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