Product Details

SNP ID

rs200988172

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:57528834 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTCCAGGTACTTAGAGACACATCG[C/G]TCCAGGCACACAGACTCGCCCTTGG

Phenotype

MIM: 613664 MIM: 602251

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

SMTNL1 PubMed Links

Gene Details

Gene

SMTNL1

Gene Name

smoothelin like 1

There are no transcripts associated with this gene.

Gene

TIMM10

Gene Name

translocase of inner mitochondrial membrane 10 homolog (yeast)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012456.2	303	Missense Mutation	GAC,GAG	D52E	NP_036588.1

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