Product Details

SNP ID

rs4781

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:2917347 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ATTAAACCCTGGAAGCTCTACAACA[C/T]GGGAAAACATCGAAATTCCCCGGAA

Phenotype

MIM: 608928 MIM: 605519

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

EMILIN2 PubMed Links

Gene Details

Gene

EMILIN2

Gene Name

elastin microfibril interfacer 2

There are no transcripts associated with this gene.

Gene

LPIN2

Gene Name

lipin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014646.2	5736	UTR 3			NP_055461.1
XM_005258177.4	5736	UTR 3			XP_005258234.1
XM_005258178.3	5736	UTR 3			XP_005258235.1
XM_005258179.4	5736	UTR 3			XP_005258236.1
XM_017026098.1	5736	UTR 3			XP_016881587.1
XM_017026099.1	5736	UTR 3			XP_016881588.1

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