Product Details

SNP ID

rs113329897

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:123614238 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGGCATCGTCATCCCCGCAAACA[C/T]CACTAATAATTAAAGAGCAGTTCCC

Phenotype

MIM: 600922

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MYLK PubMed Links

Gene Details

Gene

MYLK

Gene Name

myosin light chain kinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321309.1	2211	Missense Mutation	GAT,GGT	D1695G	NP_001308238.1
NM_053025.3	2211	Missense Mutation	GAT,GGT	D1871G	NP_444253.3
NM_053026.3	2211	Missense Mutation	GAT,GGT	D1802G	NP_444254.3
NM_053027.3	2211	Missense Mutation	GAT,GGT	D1820G	NP_444255.3
NM_053028.3	2211	Missense Mutation	GAT,GGT	D1751G	NP_444256.3
XM_011512860.2	2211	Missense Mutation	GAT,GGT	D1870G	XP_011511162.1
XM_011512861.2	2211	Missense Mutation	GAT,GGT	D1803G	XP_011511163.1
XM_017006469.1	2211	Missense Mutation	GAT,GGT	D948G	XP_016861958.1
XM_017006470.1	2211	Missense Mutation	GAT,GGT	D670G	XP_016861959.1
XM_017006471.1	2211	Missense Mutation	GAT,GGT	D671G	XP_016861960.1
XM_017006472.1	2211	Missense Mutation	GAT,GGT	D111G	XP_016861961.1
XM_017006473.1	2211	Missense Mutation	GAT,GGT	D110G	XP_016861962.1

Gene

MYLK-AS1

Gene Name

MYLK antisense RNA 1

There are no transcripts associated with this gene.

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