Product Details

SNP ID

rs143493255

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:12828696 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCTCGCAGAGCGGCTGTGCCTGG[A/C]GTACCCCCAATAGCCGCAGGCGGAA

Phenotype

MIM: 612256 MIM: 609553

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

MAST1 PubMed Links

Gene Details

Gene

MAST1

Gene Name

microtubule associated serine/threonine kinase 1

There are no transcripts associated with this gene.

Gene

RTBDN

Gene Name

retbindin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080997.2	479	Missense Mutation	CGC,CTC	R109L	NP_001074466.1
NM_001270440.1	479	Missense Mutation	CGC,CTC	R141L	NP_001257369.1
NM_001270441.1	479	Missense Mutation	CGC,CTC	R119L	NP_001257370.1
NM_001270442.1	479	Missense Mutation	CGC,CTC	R115L	NP_001257371.1
NM_001270443.1	479	Missense Mutation	CGC,CTC	R109L	NP_001257372.1
NM_001270444.1	479	Missense Mutation	CGC,CTC	R109L	NP_001257373.1
NM_001270445.1	479	Missense Mutation	CGC,CTC	R103L	NP_001257374.1
NM_031429.2	479	Missense Mutation	CGC,CTC	R141L	NP_113617.1
XM_005260089.1	479	Missense Mutation	CGC,CTC	R166L	XP_005260146.1
XM_005260090.3	479	Missense Mutation	CGC,CTC	R144L	XP_005260147.1
XM_011528343.1	479	Missense Mutation	CGC,CTC	R161L	XP_011526645.1
XM_011528344.2	479	Missense Mutation	CGC,CTC	R144L	XP_011526646.1
XM_011528345.1	479	Missense Mutation	CGC,CTC	R134L	XP_011526647.1
XM_017027343.1	479	Missense Mutation	CGC,CTC	R151L	XP_016882832.1
XM_017027344.1	479	Missense Mutation	CGC,CTC	R135L	XP_016882833.1

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