Product Details

SNP ID

rs139735825

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:169588429 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAAGAAAAGAACATGGAGGCAGAT[A/G]TAATCACAAATCTTCGATGCAGGCT

Phenotype

MIM: 616401

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SPDL1 PubMed Links

Gene Details

Gene

SPDL1

Gene Name

spindle apparatus coiled-coil protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017785.4	187	Missense Mutation	ATA,GTA	I5V	NP_060255.3
XM_011534585.1	187	Missense Mutation	ATA,GTA	I5V	XP_011532887.1
XM_011534586.2	187	Missense Mutation	ATA,GTA	I5V	XP_011532888.1
XM_011534587.2	187	Missense Mutation	ATA,GTA	I5V	XP_011532889.1
XM_011534588.2	187	Missense Mutation	ATA,GTA	I5V	XP_011532890.1
XM_011534589.2	187	Missense Mutation	ATA,GTA	I5V	XP_011532891.1
XM_011534590.2	187	Intron			XP_011532892.1
XM_017009601.1	187	Missense Mutation	ATA,GTA	I5V	XP_016865090.1
XM_017009602.1	187	Intron			XP_016865091.1

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