Product Details

SNP ID

rs274749

Assay Type

Validated

NCBI dbSNP Submissions

22

Location

Chr.1:36096252 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

ACTCATCTCAGCCTTATCCACTCCG[C/T]TTGACGTAGGGACTGAGGGGTTGGG

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	4218	UTR 3			NP_001281276.1
NM_005202.3	4218	UTR 3			NP_005193.1
XM_005270477.3	4218	UTR 3			XP_005270534.1

Gene

TEKT2

Gene Name

tektin 2

There are no transcripts associated with this gene.

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