Product Details

SNP ID

rs142110127

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:27155456 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCCCACCGCGGGAAGCAAGAAGGA[G/T]CCTGGAGGAGGCGCGGCGACTGAGG

Phenotype

MIM: 608221 MIM: 607472

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

MASTL PubMed Links

Gene Details

Gene

MASTL

Gene Name

microtubule associated serine/threonine kinase like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001172303.2	986	Missense Mutation	GAG,GAT	E10D	NP_001165774.1
NM_001172304.2	986	Missense Mutation	GAG,GAT	E10D	NP_001165775.1
NM_001320756.1	986	Missense Mutation	GAG,GAT	E10D	NP_001307685.1
NM_001320757.1	986	Missense Mutation	GAG,GAT	E10D	NP_001307686.1
NM_032844.4	986	Missense Mutation	GAG,GAT	E10D	NP_116233.2
XM_005252631.3	986	Missense Mutation	GAG,GAT	E10D	XP_005252688.1
XM_005252632.3	986	Missense Mutation	GAG,GAT	E10D	XP_005252689.1
XM_006717519.3	986	Missense Mutation	GAG,GAT	E10D	XP_006717582.1
XM_006717520.3	986	Missense Mutation	GAG,GAT	E10D	XP_006717583.1
XM_011519751.2	986	Intron			XP_011518053.1
XM_017016852.1	986	Missense Mutation	GAG,GAT	E10D	XP_016872341.1
XM_017016853.1	986	Intron			XP_016872342.1
XM_017016854.1	986	Intron			XP_016872343.1
XM_017016855.1	986	Missense Mutation	GAG,GAT	E10D	XP_016872344.1
XM_017016856.1	986	Missense Mutation	GAG,GAT	E10D	XP_016872345.1

Gene

YME1L1

Gene Name

YME1 like 1 ATPase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001253866.1	986	Intron			NP_001240795.1
NM_014263.3	986	Intron			NP_055078.1
NM_139312.2	986	Intron			NP_647473.1
XM_011519300.2	986	Intron			XP_011517602.1

View Full Product Details