Product Details

SNP ID

rs143360764

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:29215578 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAAGGTGATGTACAAGATAGTGAC[C/T]GCCCGTGAGTGGAGGTGCTGCCCTG

Phenotype

MIM: 608926

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

EMID1 PubMed Links

Gene Details

Gene

EMID1

Gene Name

EMI domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001267895.1	389	Silent Mutation	ACC,ACT	T89T	NP_001254824.1
NM_133455.3	389	Silent Mutation	ACC,ACT	T89T	NP_597712.2
XM_005261328.2	389	Silent Mutation	ACC,ACT	T89T	XP_005261385.1
XM_005261329.2	389	Silent Mutation	ACC,ACT	T89T	XP_005261386.1
XM_011529868.2	389	Silent Mutation	ACC,ACT	T89T	XP_011528170.1
XM_011529869.2	389	Silent Mutation	ACC,ACT	T89T	XP_011528171.1
XM_011529870.2	389	Silent Mutation	ACC,ACT	T89T	XP_011528172.1
XM_011529871.2	389	Silent Mutation	ACC,ACT	T89T	XP_011528173.1
XM_011529872.2	389	Silent Mutation	ACC,ACT	T89T	XP_011528174.1
XM_011529873.2	389	Silent Mutation	ACC,ACT	T89T	XP_011528175.1
XM_011529874.2	389	Silent Mutation	ACC,ACT	T24T	XP_011528176.1
XM_011529875.2	389	UTR 5			XP_011528177.1
XM_011529876.1	389	Intron			XP_011528178.1
XM_017028589.1	389	Silent Mutation	ACC,ACT	T24T	XP_016884078.1

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