Product Details

SNP ID

rs200185433

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:36097799 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCACCCACACGTTGGTGCCCTTGA[C/T]GTGCACATGGTAAGCAAAGTAGTAG

Phenotype

MIM: 610624 MIM: 120252 MIM: 608953

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ADPRHL2 PubMed Links

Gene Details

Gene

ADPRHL2

Gene Name

ADP-ribosylhydrolase like 2

There are no transcripts associated with this gene.

Gene

COL8A2

Gene Name

collagen type VIII alpha 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001294347.1	2671	Missense Mutation	ATC,GTC	I563V	NP_001281276.1
NM_005202.3	2671	Missense Mutation	ATC,GTC	I628V	NP_005193.1
XM_005270477.3	2671	Missense Mutation	ATC,GTC	I705V	XP_005270534.1

Gene

TEKT2

Gene Name

tektin 2

There are no transcripts associated with this gene.

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