Product Details

SNP ID

rs149598595

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:36091772 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCTCCTATGGCAATGGAGGTGCC[A/G]TGCGGGTGGCTGGCATCTCCCTGGC

Phenotype

MIM: 610624 MIM: 120252 MIM: 608953

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ADPRHL2 PubMed Links

Gene Details

Gene

ADPRHL2

Gene Name

ADP-ribosylhydrolase like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017825.2	516	Missense Mutation	ATG,GTG	M155V	NP_060295.1
XM_011541636.2	516	Missense Mutation	ATG,GTG	M1V	XP_011539938.1

Gene

COL8A2

Gene Name

collagen type VIII alpha 2

There are no transcripts associated with this gene.

Gene

TEKT2

Gene Name

tektin 2

There are no transcripts associated with this gene.

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