Product Details

SNP ID

rs138364346

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:123614293 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCATCGTAGTCTATCTGGAAGTGGC[A/G]GGACTCCCTGATTGACTGGTCATCT

Phenotype

MIM: 600922

Polymorphism

A/G, 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	2156	Missense Mutation	CGC,TGC	R1677C	NP_001308238.1
NM_053025.3	2156	Missense Mutation	CGC,TGC	R1853C	NP_444253.3
NM_053026.3	2156	Missense Mutation	CGC,TGC	R1784C	NP_444254.3
NM_053027.3	2156	Missense Mutation	CGC,TGC	R1802C	NP_444255.3
NM_053028.3	2156	Missense Mutation	CGC,TGC	R1733C	NP_444256.3
XM_011512860.2	2156	Missense Mutation	CGC,TGC	R1852C	XP_011511162.1
XM_011512861.2	2156	Missense Mutation	CGC,TGC	R1785C	XP_011511163.1
XM_017006469.1	2156	Missense Mutation	CGC,TGC	R930C	XP_016861958.1
XM_017006470.1	2156	Missense Mutation	CGC,TGC	R652C	XP_016861959.1
XM_017006471.1	2156	Missense Mutation	CGC,TGC	R653C	XP_016861960.1
XM_017006472.1	2156	Missense Mutation	CGC,TGC	R93C	XP_016861961.1
XM_017006473.1	2156	Missense Mutation	CGC,TGC	R92C	XP_016861962.1

Gene

MYLK-AS1

Gene Name

MYLK antisense RNA 1

There are no transcripts associated with this gene.

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