Product Details

SNP ID

rs863223953

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:32731362 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTAAGTTTTATTTTCTCAGGGTCCT[C/T]GTCCTGCTTTATTTGTGCCTGAGGT

Phenotype

MIM: 603850 MIM: 610957

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DNM1L PubMed Links

Gene Details

Gene

DNM1L

Gene Name

dynamin 1 like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278463.1	1371	Missense Mutation	CGT,TGT	R403C	NP_001265392.1
NM_001278464.1	1371	Missense Mutation	CGT,TGT	R416C	NP_001265393.1
NM_001278465.1	1371	Missense Mutation	CGT,TGT	R416C	NP_001265394.1
NM_001278466.1	1371	Missense Mutation	CGT,TGT	R200C	NP_001265395.1
NM_005690.4	1371	Missense Mutation	CGT,TGT	R403C	NP_005681.2
NM_012062.4	1371	Missense Mutation	CGT,TGT	R403C	NP_036192.2
NM_012063.3	1371	Missense Mutation	CGT,TGT	R403C	NP_036193.2
XM_005253282.4	1371	Missense Mutation	CGT,TGT	R416C	XP_005253339.1
XM_011520543.2	1371	Missense Mutation	CGT,TGT	R416C	XP_011518845.1
XM_011520544.2	1371	Missense Mutation	CGT,TGT	R184C	XP_011518846.1
XM_017018663.1	1371	Missense Mutation	CGT,TGT	R184C	XP_016874152.1
XM_017018664.1	1371	Missense Mutation	CGT,TGT	R184C	XP_016874153.1
XM_017018665.1	1371	Missense Mutation	CGT,TGT	R184C	XP_016874154.1

Gene

YARS2

Gene Name

tyrosyl-tRNA synthetase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001040436.2	1371	Intron			NP_001035526.1

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