Product Details

SNP ID

rs199575449

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:49090469 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCGGAAAGCAGCCGCCCGCCCGG[A/C]CCGCCAGTGAGTTATCTGCAGGGAA

Phenotype

MIM: 605423 MIM: 610007

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

DHH PubMed Links

Gene Details

Gene

DHH

Gene Name

desert hedgehog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021044.3	888	Missense Mutation	GGC,GTC	G194V	NP_066382.1
XM_017019380.1	888	Missense Mutation	GGC,GTC	G147V	XP_016874869.1
XM_017019381.1	888	Missense Mutation	GGC,GTC	G80V	XP_016874870.1

Gene

LMBR1L

Gene Name

limb development membrane protein 1 like

There are no transcripts associated with this gene.

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