Product Details

SNP ID

rs148575498

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:49089894 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTCCTCCGCTAAGCGGTAGAGGA[A/G]CCGAGAGTACCAATGCATGCCAGTC

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021044.3	1463	Missense Mutation	CTC,TTC	L386F	NP_066382.1
XM_017019380.1	1463	Missense Mutation	CTC,TTC	L339F	XP_016874869.1
XM_017019381.1	1463	Missense Mutation	CTC,TTC	L272F	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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