Product Details

SNP ID

rs181556463

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:117898926 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGATCTTAAGGTGCAGAAAGAGG[A/G]GACTCTCTAGAAGGTGATGGTGTGG

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	2752	Silent Mutation	TCC,TCT	S653S	NP_001161771.1
NM_001168300.1	2752	Silent Mutation	TCC,TCT	S644S	NP_001161772.1
NM_001168301.1	2752	Silent Mutation	TCC,TCT	S634S	NP_001161773.1
NM_001168302.1	2752	Silent Mutation	TCC,TCT	S634S	NP_001161774.1
NM_001168303.1	2752	Silent Mutation	TCC,TCT	S608S	NP_001161775.1
NM_033495.3	2752	Silent Mutation	TCC,TCT	S650S	NP_277030.2
XM_011531409.2	2752	Silent Mutation	TCC,TCT	S656S	XP_011529711.1
XM_011531410.2	2752	Silent Mutation	TCC,TCT	S656S	XP_011529712.1
XM_011531411.1	2752	Silent Mutation	TCC,TCT	S650S	XP_011529713.1
XM_017029950.1	2752	Silent Mutation	TCC,TCT	S634S	XP_016885439.1

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