Product Details

SNP ID

rs200272047

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:30234485 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGGAGGAGATCGGCCTCAGCCCCC[A/G]CAAGGATGGCCTTTCCTACCAGGTG

Phenotype

MIM: 611763

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

LBH PubMed Links

Gene Details

Gene

LBH

Gene Name

limb bud and heart development

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_030915.3	315	Missense Mutation	CAC,CGC	H36R	NP_112177.2
XM_017005059.1	315	Missense Mutation	CAC,CGC	H153R	XP_016860548.1

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