Product Details

SNP ID

rs2295190

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:152122609 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGAGCTGCTCGGAGGACTCTGAACA[G/T]GAAGCCGCGGCCGGACCGACCTGGC

Phenotype

MIM: 608441

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

SYNE1 PubMed Links

Gene Details

Gene

SYNE1

Gene Name

spectrin repeat containing nuclear envelope protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_033071.3	26681	Missense Mutation	ATG,CTG	M8693L	NP_149062.1
NM_182961.3	26681	Missense Mutation	ATG,CTG	M8741L	NP_892006.3
XM_006715407.1	26681	Missense Mutation	ATG,CTG	M8790L	XP_006715470.1
XM_006715408.2	26681	Missense Mutation	ATG,CTG	M8786L	XP_006715471.1
XM_006715409.1	26681	Missense Mutation	ATG,CTG	M8783L	XP_006715472.1
XM_006715410.2	26681	Missense Mutation	ATG,CTG	M8776L	XP_006715473.1
XM_006715411.1	26681	Missense Mutation	ATG,CTG	M8773L	XP_006715474.1
XM_006715412.2	26681	Missense Mutation	ATG,CTG	M8771L	XP_006715475.1
XM_006715413.2	26681	Missense Mutation	ATG,CTG	M8767L	XP_006715476.1
XM_006715414.1	26681	Missense Mutation	ATG,CTG	M8766L	XP_006715477.1
XM_006715415.2	26681	Missense Mutation	ATG,CTG	M8753L	XP_006715478.1
XM_006715416.2	26681	Missense Mutation	ATG,CTG	M8748L	XP_006715479.1
XM_006715417.2	26681	Missense Mutation	ATG,CTG	M8743L	XP_006715480.1
XM_006715420.2	26681	Missense Mutation	ATG,CTG	M8739L	XP_006715483.1
XM_006715421.2	26681	Missense Mutation	ATG,CTG	M8738L	XP_006715484.1
XM_006715422.1	26681	Missense Mutation	ATG,CTG	M8737L	XP_006715485.1
XM_006715423.2	26681	UTR 3			XP_006715486.1
XM_006715424.2	26681	UTR 3			XP_006715487.1
XM_006715425.2	26681	UTR 3			XP_006715488.1
XM_011535641.2	26681	Missense Mutation	ATG,CTG	M8789L	XP_011533943.1
XM_011535642.2	26681	Missense Mutation	ATG,CTG	M8785L	XP_011533944.1
XM_011535643.1	26681	Missense Mutation	ATG,CTG	M8735L	XP_011533945.1
XM_011535644.1	26681	Missense Mutation	ATG,CTG	M8215L	XP_011533946.1
XM_011535645.2	26681	Missense Mutation	ATG,CTG	M8046L	XP_011533947.1
XM_017010608.1	26681	Missense Mutation	ATG,CTG	M8790L	XP_016866097.1
XM_017010609.1	26681	Missense Mutation	ATG,CTG	M8790L	XP_016866098.1
XM_017010610.1	26681	Missense Mutation	ATG,CTG	M8783L	XP_016866099.1
XM_017010611.1	26681	Missense Mutation	ATG,CTG	M8781L	XP_016866100.1
XM_017010612.1	26681	Missense Mutation	ATG,CTG	M8764L	XP_016866101.1
XM_017010613.1	26681	Missense Mutation	ATG,CTG	M8752L	XP_016866102.1
XM_017010614.1	26681	Missense Mutation	ATG,CTG	M8738L	XP_016866103.1
XM_017010615.1	26681	Missense Mutation	ATG,CTG	M8701L	XP_016866104.1
XM_017010616.1	26681	UTR 3			XP_016866105.1
XM_017010617.1	26681	UTR 3			XP_016866106.1
XM_017010618.1	26681	UTR 3			XP_016866107.1
XM_017010619.1	26681	Missense Mutation	ATG,CTG	M8215L	XP_016866108.1

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