Product Details

SNP ID

rs200252150

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:74558852 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGGGGGCCACAGTAGCTCGAGCT[C/G]GGTTGGTCTGCAACTGCCCAGTCTG

Phenotype

MIM: 602919 MIM: 607163

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

DOK1 PubMed Links

Gene Details

Gene

DOK1

Gene Name

docking protein 1

There are no transcripts associated with this gene.

Gene

LOXL3

Gene Name

lysyl oxidase like 3

There are no transcripts associated with this gene.

Gene

M1AP

Gene Name

meiosis 1 associated protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001281295.1	743	Intron			NP_001268224.1
NM_001281296.1	743	Missense Mutation	CCA,CGA	P482R	NP_001268225.1
NM_001321739.1	743	Missense Mutation	CCA,CGA	P486R	NP_001308668.1
NM_138804.4	743	Missense Mutation	CCA,CGA	P486R	NP_620159.2
XM_005264152.3	743	Missense Mutation	CCA,CGA	P238R	XP_005264209.1
XM_006711946.3	743	Missense Mutation	CCA,CGA	P524R	XP_006712009.1
XM_011532548.2	743	Missense Mutation	CCA,CGA	P520R	XP_011530850.1
XM_011532549.2	743	Missense Mutation	CCA,CGA	P504R	XP_011530851.1
XM_011532550.2	743	Missense Mutation	CCA,CGA	P486R	XP_011530852.1
XM_011532551.2	743	Missense Mutation	CCA,CGA	P486R	XP_011530853.1
XM_011532552.2	743	Missense Mutation	CCA,CGA	P466R	XP_011530854.1
XM_011532553.2	743	Missense Mutation	CCA,CGA	P455R	XP_011530855.1
XM_011532554.2	743	Missense Mutation	CCA,CGA	P242R	XP_011530856.1

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