Product Details

SNP ID

rs200880341

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:152122532 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACAGCTGTAGTCTTCCTCTGACAT[C/T]GGTACAAGGCAGGCAAGCCCGATGA

Phenotype

MIM: 608441

Polymorphism

C/T, Transition 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	26758	Silent Mutation	CCA,CCG	P8718P	NP_149062.1
NM_182961.3	26758	Silent Mutation	CCA,CCG	P8766P	NP_892006.3
XM_006715407.1	26758	Silent Mutation	CCA,CCG	P8815P	XP_006715470.1
XM_006715408.2	26758	Silent Mutation	CCA,CCG	P8811P	XP_006715471.1
XM_006715409.1	26758	Silent Mutation	CCA,CCG	P8808P	XP_006715472.1
XM_006715410.2	26758	Silent Mutation	CCA,CCG	P8801P	XP_006715473.1
XM_006715411.1	26758	Silent Mutation	CCA,CCG	P8798P	XP_006715474.1
XM_006715412.2	26758	Silent Mutation	CCA,CCG	P8796P	XP_006715475.1
XM_006715413.2	26758	Silent Mutation	CCA,CCG	P8792P	XP_006715476.1
XM_006715414.1	26758	Silent Mutation	CCA,CCG	P8791P	XP_006715477.1
XM_006715415.2	26758	Silent Mutation	CCA,CCG	P8778P	XP_006715478.1
XM_006715416.2	26758	Silent Mutation	CCA,CCG	P8773P	XP_006715479.1
XM_006715417.2	26758	Silent Mutation	CCA,CCG	P8768P	XP_006715480.1
XM_006715420.2	26758	Silent Mutation	CCA,CCG	P8764P	XP_006715483.1
XM_006715421.2	26758	Silent Mutation	CCA,CCG	P8763P	XP_006715484.1
XM_006715422.1	26758	Silent Mutation	CCA,CCG	P8762P	XP_006715485.1
XM_006715423.2	26758	UTR 3			XP_006715486.1
XM_006715424.2	26758	UTR 3			XP_006715487.1
XM_006715425.2	26758	UTR 3			XP_006715488.1
XM_011535641.2	26758	Silent Mutation	CCA,CCG	P8814P	XP_011533943.1
XM_011535642.2	26758	Silent Mutation	CCA,CCG	P8810P	XP_011533944.1
XM_011535643.1	26758	Silent Mutation	CCA,CCG	P8760P	XP_011533945.1
XM_011535644.1	26758	Silent Mutation	CCA,CCG	P8240P	XP_011533946.1
XM_011535645.2	26758	Silent Mutation	CCA,CCG	P8071P	XP_011533947.1
XM_017010608.1	26758	Silent Mutation	CCA,CCG	P8815P	XP_016866097.1
XM_017010609.1	26758	Silent Mutation	CCA,CCG	P8815P	XP_016866098.1
XM_017010610.1	26758	Silent Mutation	CCA,CCG	P8808P	XP_016866099.1
XM_017010611.1	26758	Silent Mutation	CCA,CCG	P8806P	XP_016866100.1
XM_017010612.1	26758	Silent Mutation	CCA,CCG	P8789P	XP_016866101.1
XM_017010613.1	26758	Silent Mutation	CCA,CCG	P8777P	XP_016866102.1
XM_017010614.1	26758	Silent Mutation	CCA,CCG	P8763P	XP_016866103.1
XM_017010615.1	26758	Silent Mutation	CCA,CCG	P8726P	XP_016866104.1
XM_017010616.1	26758	UTR 3			XP_016866105.1
XM_017010617.1	26758	UTR 3			XP_016866106.1
XM_017010618.1	26758	UTR 3			XP_016866107.1
XM_017010619.1	26758	Silent Mutation	CCA,CCG	P8240P	XP_016866108.1

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