Product Details

SNP ID

rs35528984

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:99139368 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTGGCCAGAGTCCTTTTGTCCTGC[A/G]GTCCATATAAGAGGGTCTGGATCTG

Phenotype

MIM: 606087

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SYNM PubMed Links

Gene Details

Gene

SYNM

Gene Name

synemin

There are no transcripts associated with this gene.

Gene

TTC23

Gene Name

tetratricopeptide repeat domain 23

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001288615.1	1567	Missense Mutation	CCG,CTG	P392L	NP_001275544.1
NM_001288616.1	1567	Missense Mutation	CCG,CTG	P392L	NP_001275545.1
XM_011521927.2	1567	Silent Mutation	ACC,ACT	T464T	XP_011520229.1
XM_011521929.1	1567	Silent Mutation	ACC,ACT	T467T	XP_011520231.1
XM_011521930.1	1567	Silent Mutation	ACC,ACT	T467T	XP_011520232.1
XM_011521931.1	1567	Silent Mutation	ACC,ACT	T467T	XP_011520233.1
XM_011521932.1	1567	Silent Mutation	ACC,ACT	T467T	XP_011520234.1
XM_011521933.1	1567	Silent Mutation	ACC,ACT	T467T	XP_011520235.1
XM_011521934.1	1567	Silent Mutation	ACC,ACT	T467T	XP_011520236.1
XM_011521935.1	1567	Silent Mutation	ACC,ACT	T467T	XP_011520237.1
XM_011521936.1	1567	Silent Mutation	ACC,ACT	T467T	XP_011520238.1
XM_011521937.1	1567	Silent Mutation	ACC,ACT	T467T	XP_011520239.1
XM_011521939.1	1567	Silent Mutation	ACC,ACT	T467T	XP_011520241.1
XM_011521940.2	1567	Silent Mutation	ACC,ACT	T439T	XP_011520242.1
XM_011521941.2	1567	Missense Mutation	CGC,TGC	R417C	XP_011520243.1
XM_011521943.2	1567	Intron			XP_011520245.1
XM_011521944.2	1567	UTR 3			XP_011520246.1
XM_011521945.2	1567	Intron			XP_011520247.1
XM_017022509.1	1567	Silent Mutation	ACC,ACT	T467T	XP_016877998.1
XM_017022510.1	1567	Silent Mutation	ACC,ACT	T467T	XP_016877999.1
XM_017022511.1	1567	Silent Mutation	ACC,ACT	T467T	XP_016878000.1
XM_017022512.1	1567	Missense Mutation	CCG,CTG	P392L	XP_016878001.1
XM_017022513.1	1567	Missense Mutation	CCG,CTG	P392L	XP_016878002.1
XM_017022514.1	1567	Missense Mutation	CCG,CTG	P392L	XP_016878003.1
XM_017022515.1	1567	Missense Mutation	CCG,CTG	P392L	XP_016878004.1
XM_017022516.1	1567	Missense Mutation	CCG,CTG	P392L	XP_016878005.1
XM_017022517.1	1567	Missense Mutation	CCG,CTG	P392L	XP_016878006.1
XM_017022518.1	1567	Missense Mutation	CCG,CTG	P392L	XP_016878007.1

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