Product Details

SNP ID

rs148864387

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:65598590 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGTGGGGTGCCTGGGGTGCCAGGAG[A/C]AGAGCGTGATGTCCCCGGTGGGGGT

Phenotype

MIM: 603940 MIM: 600050

Polymorphism

A/C, Transversion 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	2738	Missense Mutation			NP_002410.1

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