Product Details

SNP ID

rs201987772

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:117909301 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTATGCTTAATATAAATGCACTTAC[A/G]CAGTTCACCTGCTGCATTTCGCCCA

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	2168	Missense Mutation	CCC,TCC	P459S	NP_001161771.1
NM_001168300.1	2168	Missense Mutation	CCC,TCC	P450S	NP_001161772.1
NM_001168301.1	2168	Missense Mutation	CCC,TCC	P440S	NP_001161773.1
NM_001168302.1	2168	Missense Mutation	CCC,TCC	P440S	NP_001161774.1
NM_001168303.1	2168	Missense Mutation	CCC,TCC	P414S	NP_001161775.1
NM_033495.3	2168	Missense Mutation	CCC,TCC	P456S	NP_277030.2
XM_011531409.2	2168	Missense Mutation	CCC,TCC	P462S	XP_011529711.1
XM_011531410.2	2168	Missense Mutation	CCC,TCC	P462S	XP_011529712.1
XM_011531411.1	2168	Missense Mutation	CCC,TCC	P456S	XP_011529713.1
XM_017029950.1	2168	Missense Mutation	CCC,TCC	P440S	XP_016885439.1

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