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SNP ID

rs201048326

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:80948850 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCTTCCGGCCCATCTGGGTGACA[A/C]TGGACACTGAGGATCACAAAGCCAA

Phenotype

MIM: 608366 MIM: 607783

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CEMIP PubMed Links

Gene Details

Gene

CEMIP

Gene Name

cell migration inducing hyaluronan binding protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001293298.1	4300	Missense Mutation	ATG,CTG	M1338L	NP_001280227.1
NM_001293304.1	4300	Missense Mutation	ATG,CTG	M1338L	NP_001280233.1
NM_018689.2	4300	Missense Mutation	ATG,CTG	M1338L	NP_061159.1

Gene

MESDC2

Gene Name

mesoderm development candidate 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015154.2	4300	Intron			NP_055969.1

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