Product Details

SNP ID

rs140450670

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:47834433 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTGACTCTTTTCCCAGGTTTCACA[C/T]TCTTGATGAACTGCAGACTGTCCGC

Phenotype

MIM: 611825 MIM: 614966

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LRRC46 PubMed Links

Gene Details

Gene

LRRC46

Gene Name

leucine rich repeat containing 46

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_033413.3	488	Missense Mutation	ACT,ATT	T42I	NP_219481.1
XM_005257775.4	488	Missense Mutation	ACT,ATT	T51I	XP_005257832.1

Gene

MRPL10

Gene Name

mitochondrial ribosomal protein L10

There are no transcripts associated with this gene.

Gene

SCRN2

Gene Name

secernin 2

There are no transcripts associated with this gene.

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