Product Details

SNP ID

rs145992599

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:65599553 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCGGCTCGGTCGGGCAGGGCGCGG[A/G]CGTTGGCGTGGGGGGTGTTGTCGGG

Phenotype

MIM: 603940 MIM: 600050

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EHBP1L1 PubMed Links

Gene Details

Gene

EHBP1L1

Gene Name

EH domain binding protein 1 like 1

There are no transcripts associated with this gene.

Gene

KCNK7

Gene Name

potassium two pore domain channel subfamily K member 7

There are no transcripts associated with this gene.

Gene

MAP3K11

Gene Name

mitogen-activated protein kinase kinase kinase 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002419.3	2540	Missense Mutation	CCC,TCC	P683S	NP_002410.1

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