Product Details

SNP ID

rs139268416

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:30231757 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGACTTCATGTCTATATATTTCCCC[A/T]TTCACTGGTGAGTACCCTGCGCCTG

Phenotype

MIM: 611763

Polymorphism

A/T, 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	227	Missense Mutation	ATT,TTT	I7F	NP_112177.2
XM_017005059.1	227	Intron			XP_016860548.1

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