Product Details

SNP ID

rs144822809

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:30234459 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGAGGTGATGATGAACACCCAGCC[A/C]ATGGAGGAGATCGGCCTCAGCCCCC

Phenotype

MIM: 611763

Polymorphism

A/C, Transversion 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	289	Silent Mutation	CCA,CCC	P27P	NP_112177.2
XM_017005059.1	289	Silent Mutation	CCA,CCC	P144P	XP_016860548.1

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