Product Details

SNP ID

rs141213887

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:85514217 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGAGATGATGAAGCCAGTCAGGAA[C/T]CTGGAAAACTACCCGTCCTGAGAAA

Phenotype

MIM: 616105

Polymorphism

C/T, Transition 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	2559	Missense Mutation	ATT,GTT	I795V	NP_001284543.1
NM_001304479.1	2559	Missense Mutation	ATT,GTT	I752V	NP_001291408.1
NM_020468.5	2559	Missense Mutation	ATT,GTT	I751V	NP_065201.1
NM_153816.5	2559	Missense Mutation	ATT,GTT	I804V	NP_722523.1
XM_005248738.3	2559	Missense Mutation	ATT,GTT	I803V	XP_005248795.1
XM_005248740.3	2559	Missense Mutation	ATT,GTT	I760V	XP_005248797.1
XM_011535977.2	2559	Missense Mutation	ATT,GTT	I752V	XP_011534279.1
XM_011535979.1	2559	Missense Mutation	ATT,GTT	I708V	XP_011534281.1
XM_017011090.1	2559	Missense Mutation	ATT,GTT	I751V	XP_016866579.1
XM_017011091.1	2559	Missense Mutation	ATT,GTT	I794V	XP_016866580.1
XM_017011092.1	2559	Missense Mutation	ATT,GTT	I759V	XP_016866581.1
XM_017011093.1	2559	Missense Mutation	ATT,GTT	I751V	XP_016866582.1
XM_017011094.1	2559	Missense Mutation	ATT,GTT	I707V	XP_016866583.1
XM_017011095.1	2559	Missense Mutation	ATT,GTT	I454V	XP_016866584.1
XM_017011096.1	2559	Missense Mutation	ATT,GTT	I419V	XP_016866585.1
XM_017011097.1	2559	Missense Mutation	ATT,GTT	I419V	XP_016866586.1
XM_017011098.1	2559	Missense Mutation	ATT,GTT	I419V	XP_016866587.1
XM_017011099.1	2559	Missense Mutation	ATT,GTT	I419V	XP_016866588.1
XM_017011100.1	2559	Missense Mutation	ATT,GTT	I419V	XP_016866589.1
XM_017011101.1	2559	Missense Mutation	ATT,GTT	I410V	XP_016866590.1

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