Product Details

SNP ID

rs200463772

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:59866509 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTATTACAGACCTAGAGTCCTGACT[G/T]TGATGATTCATTGTTCTCAGATGTT

Phenotype

MIM: 604105

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

SYCP2 PubMed Links

Gene Details

Gene

SYCP2

Gene Name

synaptonemal complex protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014258.3	4391	Missense Mutation	CAA,CAC	Q1402H	NP_055073.2
XM_011528487.2	4391	Missense Mutation	CAA,CAC	Q1409H	XP_011526789.1
XM_011528488.2	4391	Missense Mutation	CAA,CAC	Q1409H	XP_011526790.1
XM_011528489.2	4391	Missense Mutation	CAA,CAC	Q1402H	XP_011526791.1
XM_011528490.2	4391	Missense Mutation	CAA,CAC	Q1401H	XP_011526792.1
XM_011528493.2	4391	Missense Mutation	CAA,CAC	Q1237H	XP_011526795.1
XM_017027586.1	4391	Missense Mutation	CAA,CAC	Q1409H	XP_016883075.1
XM_017027587.1	4391	Missense Mutation	CAA,CAC	Q1408H	XP_016883076.1
XM_017027588.1	4391	Missense Mutation	CAA,CAC	Q1357H	XP_016883077.1
XM_017027589.1	4391	Missense Mutation	CAA,CAC	Q1352H	XP_016883078.1
XM_017027590.1	4391	Missense Mutation	CAA,CAC	Q1237H	XP_016883079.1
XM_017027591.1	4391	Missense Mutation	CAA,CAC	Q926H	XP_016883080.1
XM_017027592.1	4391	Intron			XP_016883081.1

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