Product Details

SNP ID

rs34480825

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:47838400 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTCCAAAAGTGGGGGACAGCACC[C/T]GGGGGGCCTGGGCCACCCCCATCCC

Phenotype

MIM: 611825 MIM: 614966 MIM: 608613

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	1043	Intron			NP_219481.1
XM_005257775.4	1043	Intron			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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145023.1	1043	Missense Mutation	CAG,CGG	Q330R	NP_001138495.1
NM_138355.3	1043	Missense Mutation	CAG,CGG	Q330R	NP_612364.2
XM_005257776.4	1043	Missense Mutation	CAG,CGG	Q330R	XP_005257833.1
XM_017025286.1	1043	Missense Mutation	CAG,CGG	Q330R	XP_016880775.1

Gene

SP6

Gene Name

Sp6 transcription factor

There are no transcripts associated with this gene.

View Full Product Details