Product Details

SNP ID

rs185972982

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:89738159 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATATCTCAAAAAATTGTACCATTCC[G/T]CAAAGGGACTTGGATAACATGGCCT

Phenotype

MIM: 608689

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

MESP1 PubMed Links

Gene Details

Gene

MESP1

Gene Name

mesoderm posterior bHLH transcription factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018670.3	1907	Intron			NP_061140.1

Gene

WDR93

Gene Name

WD repeat domain 93

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001284395.1	1907	Silent Mutation	CCG,CCT	P600P	NP_001271324.1
NM_001284396.1	1907	Intron			NP_001271325.1
NM_020212.1	1907	Silent Mutation	CCG,CCT	P628P	NP_064597.1
XM_006720614.1	1907	Missense Mutation	CGC,CTC	R607L	XP_006720677.1
XM_006720615.1	1907	Missense Mutation	CGC,CTC	R578L	XP_006720678.1
XM_006720618.2	1907	Intron			XP_006720681.1
XM_011521794.2	1907	Missense Mutation	CGC,CTC	R607L	XP_011520096.1
XM_011521795.1	1907	Missense Mutation	CGC,CTC	R607L	XP_011520097.1
XM_011521796.2	1907	Silent Mutation	CCG,CCT	P582P	XP_011520098.1
XM_011521798.2	1907	Missense Mutation	CGC,CTC	R409L	XP_011520100.1
XM_011521800.1	1907	Missense Mutation	CGC,CTC	R409L	XP_011520102.1
XM_011521802.2	1907	Intron			XP_011520104.1
XM_017022415.1	1907	Missense Mutation	CGC,CTC	R431L	XP_016877904.1
XM_017022416.1	1907	Missense Mutation	CGC,CTC	R409L	XP_016877905.1
XM_017022417.1	1907	Intron			XP_016877906.1

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