Product Details

SNP ID

rs199991436

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:81332889 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAATCTCTGCTTGGCGTCTCCTCCT[C/T]TTCTTCACTCAGCTGTGGGGAGGGA

Phenotype

MIM: 607050

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

STARD5 PubMed Links

Gene Details

Gene

STARD5

Gene Name

StAR related lipid transfer domain containing 5

There are no transcripts associated with this gene.

Gene

TMC3

Gene Name

transmembrane channel like 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080532.1	2833	Missense Mutation	AAG,GAG	K945E	NP_001074001.1

Gene

TMC3-AS1

Gene Name

TMC3 antisense RNA 1

There are no transcripts associated with this gene.

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