Product Details

SNP ID

rs71403426

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:99137215 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCGACTTTGCCATCCTCACACGACT[A/G]TGGCCTCCTTCCAGGGGGCTGAAGA

Phenotype

MIM: 606087

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SYNM PubMed Links

Gene Details

Gene

SYNM

Gene Name

synemin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015286.5	2531	Intron			NP_056101.5
NM_145728.2	2531	Intron			NP_663780.2
XM_017022035.1	2531	Intron			XP_016877524.1

Gene

TTC23

Gene Name

tetratricopeptide repeat domain 23

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001288615.1	2531	UTR 3			NP_001275544.1
NM_001288616.1	2531	UTR 3			NP_001275545.1
XM_011521927.2	2531	UTR 3			XP_011520229.1
XM_011521929.1	2531	UTR 3			XP_011520231.1
XM_011521930.1	2531	UTR 3			XP_011520232.1
XM_011521931.1	2531	UTR 3			XP_011520233.1
XM_011521932.1	2531	UTR 3			XP_011520234.1
XM_011521933.1	2531	UTR 3			XP_011520235.1
XM_011521934.1	2531	UTR 3			XP_011520236.1
XM_011521935.1	2531	UTR 3			XP_011520237.1
XM_011521936.1	2531	UTR 3			XP_011520238.1
XM_011521937.1	2531	UTR 3			XP_011520239.1
XM_011521939.1	2531	UTR 3			XP_011520241.1
XM_011521940.2	2531	UTR 3			XP_011520242.1
XM_011521941.2	2531	UTR 3			XP_011520243.1
XM_011521943.2	2531	Intron			XP_011520245.1
XM_011521944.2	2531	Intron			XP_011520246.1
XM_011521945.2	2531	Intron			XP_011520247.1
XM_017022509.1	2531	UTR 3			XP_016877998.1
XM_017022510.1	2531	UTR 3			XP_016877999.1
XM_017022511.1	2531	UTR 3			XP_016878000.1
XM_017022512.1	2531	UTR 3			XP_016878001.1
XM_017022513.1	2531	UTR 3			XP_016878002.1
XM_017022514.1	2531	UTR 3			XP_016878003.1
XM_017022515.1	2531	UTR 3			XP_016878004.1
XM_017022516.1	2531	UTR 3			XP_016878005.1
XM_017022517.1	2531	UTR 3			XP_016878006.1
XM_017022518.1	2531	UTR 3			XP_016878007.1

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