Product Details

SNP ID

rs141948771

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:85507988 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTACCTGCTTGTTGAGTACTGGTT[C/G]CTGTAAGCCATCAAACAGAAGTCTG

Phenotype

MIM: 616105

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

SNX14 PubMed Links

Gene Details

Gene

SNX14

Gene Name

sorting nexin 14

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001297614.2	2874	Missense Mutation	CAA,GAA	Q900E	NP_001284543.1
NM_001304479.1	2874	Missense Mutation	CAA,GAA	Q857E	NP_001291408.1
NM_020468.5	2874	Missense Mutation	CAA,GAA	Q856E	NP_065201.1
NM_153816.5	2874	Missense Mutation	CAA,GAA	Q909E	NP_722523.1
XM_005248738.3	2874	Missense Mutation	CAA,GAA	Q908E	XP_005248795.1
XM_005248740.3	2874	Missense Mutation	CAA,GAA	Q865E	XP_005248797.1
XM_011535977.2	2874	Intron			XP_011534279.1
XM_011535979.1	2874	Missense Mutation	CAA,GAA	Q813E	XP_011534281.1
XM_017011090.1	2874	Missense Mutation	CAA,GAA	Q856E	XP_016866579.1
XM_017011091.1	2874	Missense Mutation	CAA,GAA	Q899E	XP_016866580.1
XM_017011092.1	2874	Missense Mutation	CAA,GAA	Q864E	XP_016866581.1
XM_017011093.1	2874	Missense Mutation	CAA,GAA	Q856E	XP_016866582.1
XM_017011094.1	2874	Missense Mutation	CAA,GAA	Q812E	XP_016866583.1
XM_017011095.1	2874	Missense Mutation	CAA,GAA	Q559E	XP_016866584.1
XM_017011096.1	2874	Missense Mutation	CAA,GAA	Q524E	XP_016866585.1
XM_017011097.1	2874	Missense Mutation	CAA,GAA	Q524E	XP_016866586.1
XM_017011098.1	2874	Missense Mutation	CAA,GAA	Q524E	XP_016866587.1
XM_017011099.1	2874	Missense Mutation	CAA,GAA	Q524E	XP_016866588.1
XM_017011100.1	2874	Missense Mutation	CAA,GAA	Q524E	XP_016866589.1
XM_017011101.1	2874	Missense Mutation	CAA,GAA	Q515E	XP_016866590.1

View Full Product Details