Product Details

SNP ID

rs199654680

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:132572415 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGTGTGTGTTTTTTCTCTTGAACT[A/G]TGTTAGTCACATCAGGGAATGAGTG

Phenotype

MIM: 614930

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

LRRC6 PubMed Links

Gene Details

Gene

LRRC6

Gene Name

leucine rich repeat containing 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321961.1	2049	Missense Mutation	ACA,ATA	T411I	NP_001308890.1
NM_001321962.1	2049	Missense Mutation	ACA,ATA	T349I	NP_001308891.1
NM_001321963.1	2049	Missense Mutation	ACA,ATA	T311I	NP_001308892.1
NM_001321964.1	2049	Missense Mutation	ACA,ATA	T311I	NP_001308893.1
NM_001321965.1	2049	Missense Mutation	ACA,ATA	T311I	NP_001308894.1
NM_001321966.1	2049	Missense Mutation	ACA,ATA	T291I	NP_001308895.1
NM_012472.5	2049	Missense Mutation	ACA,ATA	T431I	NP_036604.2
XM_006716538.3	2049	Missense Mutation	ACA,ATA	T437I	XP_006716601.2
XM_011516950.2	2049	Missense Mutation	ACA,ATA	T417I	XP_011515252.1
XM_017013296.1	2049	Missense Mutation	ACA,ATA	T397I	XP_016868785.1
XM_017013297.1	2049	Missense Mutation	ACA,ATA	T311I	XP_016868786.1
XM_017013298.1	2049	Missense Mutation	ACA,ATA	T311I	XP_016868787.1

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