Product Details

SNP ID

rs144398588

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:47834474 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACTGTCCGCCTGGACCGGGAGGGG[A/T]TTACTACTATCAGGAACTTAGAAGG

Phenotype

MIM: 611825 MIM: 614966

Polymorphism

A/T, Transversion 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	529	Missense Mutation	ATT,TTT	I56F	NP_219481.1
XM_005257775.4	529	Missense Mutation	ATT,TTT	I65F	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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