Product Details

SNP ID

rs188976051

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:49102125 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTAGGGCTGGTATACCTACCGTCA[C/G]CACCAGCAAGCACAGCATAGCCAGG

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	1259	Missense Mutation	CTG,GTG	L304V	NP_001287679.1
NM_001300751.1	1259	Missense Mutation	CTG,GTG	L309V	NP_001287680.1
NM_018113.3	1259	Missense Mutation	CTG,GTG	L309V	NP_060583.2
XM_011538563.2	1259	Missense Mutation	CTG,GTG	L304V	XP_011536865.1
XM_011538564.2	1259	Missense Mutation	CTG,GTG	L270V	XP_011536866.1
XM_011538565.2	1259	Missense Mutation	CTG,GTG	L182V	XP_011536867.1
XM_011538566.2	1259	Missense Mutation	CTG,GTG	L101V	XP_011536868.1
XM_017019626.1	1259	Missense Mutation	CTG,GTG	L304V	XP_016875115.1
XM_017019627.1	1259	Missense Mutation	CTG,GTG	L304V	XP_016875116.1
XM_017019628.1	1259	Missense Mutation	CTG,GTG	L309V	XP_016875117.1
XM_017019629.1	1259	Missense Mutation	CTG,GTG	L270V	XP_016875118.1
XM_017019630.1	1259	Missense Mutation	CTG,GTG	L101V	XP_016875119.1
XM_017019631.1	1259	Missense Mutation	CTG,GTG	L101V	XP_016875120.1

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