Product Details

SNP ID

rs200499926

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:99138119 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCTGCCTTGGCTTCGAAGCAACC[C/T]TGGGGGCCCTGCAGACAAGCAGAGG

Phenotype

MIM: 606087

Polymorphism

C/T, 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	1627	Missense Mutation	AAG,AGG	K412R	NP_001275544.1
NM_001288616.1	1627	Missense Mutation	AAG,AGG	K412R	NP_001275545.1
XM_011521927.2	1627	Silent Mutation	CAA,CAG	Q484Q	XP_011520229.1
XM_011521929.1	1627	Silent Mutation	CAA,CAG	Q487Q	XP_011520231.1
XM_011521930.1	1627	Silent Mutation	CAA,CAG	Q487Q	XP_011520232.1
XM_011521931.1	1627	Silent Mutation	CAA,CAG	Q487Q	XP_011520233.1
XM_011521932.1	1627	Silent Mutation	CAA,CAG	Q487Q	XP_011520234.1
XM_011521933.1	1627	Silent Mutation	CAA,CAG	Q487Q	XP_011520235.1
XM_011521934.1	1627	Silent Mutation	CAA,CAG	Q487Q	XP_011520236.1
XM_011521935.1	1627	Silent Mutation	CAA,CAG	Q487Q	XP_011520237.1
XM_011521936.1	1627	Silent Mutation	CAA,CAG	Q487Q	XP_011520238.1
XM_011521937.1	1627	Silent Mutation	CAA,CAG	Q487Q	XP_011520239.1
XM_011521939.1	1627	Silent Mutation	CAA,CAG	Q487Q	XP_011520241.1
XM_011521940.2	1627	Silent Mutation	CAA,CAG	Q459Q	XP_011520242.1
XM_011521941.2	1627	Missense Mutation	AGG,GGG	R437G	XP_011520243.1
XM_011521943.2	1627	Intron			XP_011520245.1
XM_011521944.2	1627	Intron			XP_011520246.1
XM_011521945.2	1627	Intron			XP_011520247.1
XM_017022509.1	1627	Silent Mutation	CAA,CAG	Q487Q	XP_016877998.1
XM_017022510.1	1627	Silent Mutation	CAA,CAG	Q487Q	XP_016877999.1
XM_017022511.1	1627	Silent Mutation	CAA,CAG	Q487Q	XP_016878000.1
XM_017022512.1	1627	Missense Mutation	AAG,AGG	K412R	XP_016878001.1
XM_017022513.1	1627	Missense Mutation	AAG,AGG	K412R	XP_016878002.1
XM_017022514.1	1627	Missense Mutation	AAG,AGG	K412R	XP_016878003.1
XM_017022515.1	1627	Missense Mutation	AAG,AGG	K412R	XP_016878004.1
XM_017022516.1	1627	Missense Mutation	AAG,AGG	K412R	XP_016878005.1
XM_017022517.1	1627	Missense Mutation	AAG,AGG	K412R	XP_016878006.1
XM_017022518.1	1627	Missense Mutation	AAG,AGG	K412R	XP_016878007.1

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