Product Details

SNP ID

rs142172227

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:34567765 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCAACTCTTCTTGTCTTAAAATCT[A/G]TAAGTTCTGTGAAAAAGAAATTAGG

Phenotype

MIM: 606098

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SNX6 PubMed Links

Gene Details

Gene

SNX6

Gene Name

sorting nexin 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021249.3	1237	Missense Mutation	ACA,ATA	T247I	NP_067072.3
NM_152233.2	1237	Missense Mutation	ACA,ATA	T375I	NP_689419.2
XM_006720224.1	1237	Missense Mutation	ACA,ATA	T338I	XP_006720287.1

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