Product Details

SNP ID

rs148132302

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:47835704 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGGAAACCAAATCAGGCAGGTGG[A/T]AAACCTCCTCGACCTCCCATGCCTC

Phenotype

MIM: 611825 MIM: 614966 MIM: 608613

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	674	Missense Mutation	GAA,GTA	E104V	NP_219481.1
XM_005257775.4	674	Missense Mutation	GAA,GTA	E113V	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.

Gene

SP6

Gene Name

Sp6 transcription factor

There are no transcripts associated with this gene.

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