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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