Product Details

SNP ID

rs142149590

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:117909530 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAATGACGGCGATGCCATGCTGGTA[C/T]CTTGGGGCATCCATGGGGGCTAACG

Phenotype

MIM: 300655

Polymorphism

C/T, 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	1939	Silent Mutation	AGA,AGG	R382R	NP_001161771.1
NM_001168300.1	1939	Silent Mutation	AGA,AGG	R373R	NP_001161772.1
NM_001168301.1	1939	Silent Mutation	AGA,AGG	R363R	NP_001161773.1
NM_001168302.1	1939	Silent Mutation	AGA,AGG	R363R	NP_001161774.1
NM_001168303.1	1939	Silent Mutation	AGA,AGG	R337R	NP_001161775.1
NM_033495.3	1939	Silent Mutation	AGA,AGG	R379R	NP_277030.2
XM_011531409.2	1939	Silent Mutation	AGA,AGG	R385R	XP_011529711.1
XM_011531410.2	1939	Silent Mutation	AGA,AGG	R385R	XP_011529712.1
XM_011531411.1	1939	Silent Mutation	AGA,AGG	R379R	XP_011529713.1
XM_017029950.1	1939	Silent Mutation	AGA,AGG	R363R	XP_016885439.1

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