Product Details

SNP ID

rs143038753

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:49101483 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCAGCCTGGTACCTGCATGCCTC[A/G]GGGCATGGCAGCCTCATCGATGAGC

Phenotype

MIM: 605423 MIM: 610007

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DHH PubMed Links

Gene Details

Gene

DHH

Gene Name

desert hedgehog

There are no transcripts associated with this gene.

Gene

LMBR1L

Gene Name

limb development membrane protein 1 like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001300750.1	1331	Nonsense Mutation	CGA,TGA	R328*	NP_001287679.1
NM_001300751.1	1331	Nonsense Mutation	CGA,TGA	R333*	NP_001287680.1
NM_018113.3	1331	Nonsense Mutation	CGA,TGA	R333*	NP_060583.2
XM_011538563.2	1331	Nonsense Mutation	CGA,TGA	R328*	XP_011536865.1
XM_011538564.2	1331	Nonsense Mutation	CGA,TGA	R294*	XP_011536866.1
XM_011538565.2	1331	Nonsense Mutation	CGA,TGA	R206*	XP_011536867.1
XM_011538566.2	1331	Nonsense Mutation	CGA,TGA	R125*	XP_011536868.1
XM_017019626.1	1331	Nonsense Mutation	CGA,TGA	R328*	XP_016875115.1
XM_017019627.1	1331	Nonsense Mutation	CGA,TGA	R328*	XP_016875116.1
XM_017019628.1	1331	Nonsense Mutation	CGA,TGA	R333*	XP_016875117.1
XM_017019629.1	1331	Nonsense Mutation	CGA,TGA	R294*	XP_016875118.1
XM_017019630.1	1331	Nonsense Mutation	CGA,TGA	R125*	XP_016875119.1
XM_017019631.1	1331	Nonsense Mutation	CGA,TGA	R125*	XP_016875120.1

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