Product Details

SNP ID

rs187717991

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:117909353 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAACTGCATACAGATATCCTTTGAG[A/G]GCACTTAGGTGGAAGAAGGTGCGCT

Phenotype

MIM: 300655

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KLHL13 PubMed Links

Gene Details

Gene

KLHL13

Gene Name

kelch like family member 13

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001168299.1	2116	Silent Mutation	GCC,GCT	A441A	NP_001161771.1
NM_001168300.1	2116	Silent Mutation	GCC,GCT	A432A	NP_001161772.1
NM_001168301.1	2116	Silent Mutation	GCC,GCT	A422A	NP_001161773.1
NM_001168302.1	2116	Silent Mutation	GCC,GCT	A422A	NP_001161774.1
NM_001168303.1	2116	Silent Mutation	GCC,GCT	A396A	NP_001161775.1
NM_033495.3	2116	Silent Mutation	GCC,GCT	A438A	NP_277030.2
XM_011531409.2	2116	Silent Mutation	GCC,GCT	A444A	XP_011529711.1
XM_011531410.2	2116	Silent Mutation	GCC,GCT	A444A	XP_011529712.1
XM_011531411.1	2116	Silent Mutation	GCC,GCT	A438A	XP_011529713.1
XM_017029950.1	2116	Silent Mutation	GCC,GCT	A422A	XP_016885439.1

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