Product Details

SNP ID

rs113362509

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:29260176 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACACGGCACCCTCCACACGGCCTG[C/T]GGCTGCCAGTGCCACCACCGCCTGC

Phenotype

MIM: 608926 MIM: 133450

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	1347	Intron			NP_001254824.1
NM_133455.3	1347	Intron			NP_597712.2
XM_005261328.2	1347	Intron			XP_005261385.1
XM_005261329.2	1347	Intron			XP_005261386.1
XM_011529868.2	1347	Intron			XP_011528170.1
XM_011529869.2	1347	Intron			XP_011528171.1
XM_011529870.2	1347	Intron			XP_011528172.1
XM_011529871.2	1347	Intron			XP_011528173.1
XM_011529872.2	1347	Intron			XP_011528174.1
XM_011529873.2	1347	Intron			XP_011528175.1
XM_011529874.2	1347	Intron			XP_011528176.1
XM_011529875.2	1347	Intron			XP_011528177.1
XM_011529876.1	1347	Intron			XP_011528178.1
XM_017028589.1	1347	Intron			XP_016884078.1

Gene

EWSR1

Gene Name

EWS RNA binding protein 1

There are no transcripts associated with this gene.

Gene

RHBDD3

Gene Name

rhomboid domain containing 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_006724224.3	1347	Missense Mutation	ACA,GCA	T221A	XP_006724287.1
XM_011530107.2	1347	Missense Mutation	ACA,GCA	T349A	XP_011528409.1
XM_017028749.1	1347	Missense Mutation	ACA,GCA	T352A	XP_016884238.1
XM_017028750.1	1347	Missense Mutation	ACA,GCA	T216A	XP_016884239.1

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