Product Details

SNP ID
rs72891155
Assay Type
Functionally Tested
NCBI dbSNP Submissions
11
Location
Chr.1:965059 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAACTCCATCGAGAAGTACAACCC[A/G]AGGACCAACAAGTGGGTGGCCGCAT
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 2457 Silent Mutation CCA,CCG P599P NP_938073.1
XM_006710600.3 2457 Silent Mutation CCA,CCG P622P XP_006710663.1
XM_006710601.3 2457 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 2457 Intron NP_001153656.1
NM_032129.2 2457 Intron NP_115505.2
XM_006710944.3 2457 Intron XP_006711007.2
XM_011542248.2 2457 Intron XP_011540550.2
XM_017002474.1 2457 Intron XP_016857963.1
XM_017002475.1 2457 Intron XP_016857964.1
XM_017002476.1 2457 Intron XP_016857965.1
XM_017002477.1 2457 Intron XP_016857966.1
XM_017002478.1 2457 Intron XP_016857967.1
XM_017002479.1 2457 Intron XP_016857968.1

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