Product Details

SNP ID

rs148742612

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:97146848 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGTCTCTGCATCTCATCTTGTCC[C/T]ATCTGTCCAAGGTGAGACAAAAGTT

Phenotype

MIM: 615614

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KLHL32 PubMed Links

Gene Details

Gene

KLHL32

Gene Name

kelch like family member 32

There are no transcripts associated with this gene.

Gene

MMS22L

Gene Name

MMS22 like, DNA repair protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198468.2	3956	Missense Mutation	ATA,ATG	I1230M	NP_940870.2
XM_006715430.1	3956	Missense Mutation	ATA,ATG	I1230M	XP_006715493.1
XM_006715432.3	3956	Intron			XP_006715495.1
XM_011535670.2	3956	Intron			XP_011533972.1
XM_011535671.2	3956	Intron			XP_011533973.1
XM_011535672.2	3956	Intron			XP_011533974.1
XM_011535673.2	3956	Intron			XP_011533975.1
XM_011535674.2	3956	Intron			XP_011533976.1
XM_011535675.2	3956	Intron			XP_011533977.1
XM_011535676.2	3956	Intron			XP_011533978.1
XM_011535677.2	3956	Intron			XP_011533979.1
XM_011535678.2	3956	Intron			XP_011533980.1
XM_011535679.2	3956	Intron			XP_011533981.1
XM_011535680.2	3956	Intron			XP_011533982.1
XM_017010656.1	3956	Intron			XP_016866145.1
XM_017010657.1	3956	Missense Mutation	ATA,ATG	I947M	XP_016866146.1

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