Product Details

SNP ID

rs200332335

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:501876 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCCCAGGCTCCACCAGGACTCGCC[A/G]CCCTGAGATCTCCCAGGCTGGGCCC

Phenotype

MIM: 102670

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MADCAM1 PubMed Links

Gene Details

Gene

MADCAM1

Gene Name

mucosal vascular addressin cell adhesion molecule 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_130760.2	885	Missense Mutation	CAC,CGC	H292R	NP_570116.2
NM_130762.2	885	Intron			NP_570118.1

Gene

TPGS1

Gene Name

tubulin polyglutamylase complex subunit 1

There are no transcripts associated with this gene.

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