Product Details

SNP ID

rs200463757

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:49102357 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTGTAGCAGCTCCATGTCTAAAGG[C/G]AGCCAGCAGGAAGTAGGATCTGAGG

Phenotype

MIM: 605423 MIM: 610007

Polymorphism

C/G, Transversion 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	1123	Silent Mutation	CTC,CTG	L258L	NP_001287679.1
NM_001300751.1	1123	Silent Mutation	CTC,CTG	L263L	NP_001287680.1
NM_018113.3	1123	Silent Mutation	CTC,CTG	L263L	NP_060583.2
XM_011538563.2	1123	Silent Mutation	CTC,CTG	L258L	XP_011536865.1
XM_011538564.2	1123	Silent Mutation	CTC,CTG	L224L	XP_011536866.1
XM_011538565.2	1123	Silent Mutation	CTC,CTG	L136L	XP_011536867.1
XM_011538566.2	1123	Silent Mutation	CTC,CTG	L55L	XP_011536868.1
XM_017019626.1	1123	Silent Mutation	CTC,CTG	L258L	XP_016875115.1
XM_017019627.1	1123	Silent Mutation	CTC,CTG	L258L	XP_016875116.1
XM_017019628.1	1123	Silent Mutation	CTC,CTG	L263L	XP_016875117.1
XM_017019629.1	1123	Silent Mutation	CTC,CTG	L224L	XP_016875118.1
XM_017019630.1	1123	Silent Mutation	CTC,CTG	L55L	XP_016875119.1
XM_017019631.1	1123	Silent Mutation	CTC,CTG	L55L	XP_016875120.1

View Full Product Details