Product Details

SNP ID

rs201383709

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:30234471 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAACACCCAGCCCATGGAGGAGAT[C/T]GGCCTCAGCCCCCGCAAGGATGGCC

Phenotype

MIM: 611763

Polymorphism

C/T, 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	301	Silent Mutation	ATC,ATT	I31I	NP_112177.2
XM_017005059.1	301	Silent Mutation	ATC,ATT	I148I	XP_016860548.1

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