Product Details

SNP ID

rs200281666

Assay Type

Functionally tested

NCBI dbSNP Submissions

11

Location

Chr.1:201899509 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTGGGGAGCCCTTAGCCACGGCCC[C/T]GGCCTTGGGTACCTCCAGCAGATCC

Phenotype

MIM: 602715

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LMOD1 PubMed Links

Gene Details

Gene

LMOD1

Gene Name

leiomodin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012134.2	1752	Missense Mutation	AGG,GGG	R502G	NP_036266.2

Gene

SHISA4

Gene Name

shisa family member 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198149.2	1752	Intron			NP_937792.2
XM_017000419.1	1752	Intron			XP_016855908.1

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