Product Details

SNP ID

rs80176292

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:49090246 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGCGGCAAACACCAGGTGCCAGGG[C/T]GTGAGCAACAGTTTGCGTGGAGGCC

Phenotype

MIM: 605423 MIM: 610007

Polymorphism

C/T, 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	1111	Silent Mutation	ACA,ACG	T268T	NP_066382.1
XM_017019380.1	1111	Silent Mutation	ACA,ACG	T221T	XP_016874869.1
XM_017019381.1	1111	Silent Mutation	ACA,ACG	T154T	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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