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SNP ID

rs138502787

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:172088078 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGGGTGGGGCGGCTCTGGAGGGT[A/G]GTGCGTTGGCCAACGGTCGGGCCCT

Phenotype

MIM: 600029 MIM: 610267

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DLX1 PubMed Links

Gene Details

Gene

DLX1

Gene Name

distal-less homeobox 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_178120.4	787	Missense Mutation	AGT,GGT	S197G	NP_835221.2

Gene

METAP1D

Gene Name

methionyl aminopeptidase type 1D (mitochondrial)

There are no transcripts associated with this gene.

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