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SNP ID

rs140842284

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:47832147 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAAGGGGGCGTCTGCATCACTGAA[A/G]CCCTTATCACTAAGCGGAACTTGAC

Phenotype

MIM: 611825 MIM: 614966

Polymorphism

A/G, 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	421	Missense Mutation	ACC,GCC	T20A	NP_219481.1
XM_005257775.4	421	Intron			XP_005257832.1

Gene

MRPL10

Gene Name

mitochondrial ribosomal protein L10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_145255.3	421	Intron			NP_660298.2
NM_148887.2	421	Intron			NP_683685.1

Gene

SCRN2

Gene Name

secernin 2

There are no transcripts associated with this gene.

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