Product Details

SNP ID

rs140512221

Assay Type

Functionally tested

NCBI dbSNP Submissions

12

Location

Chr.1:36085274 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTGACAGATTTAGATGCCGAGATC[A/G]ATGCCCTGACACAGGCAGGGATCCA

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

There are no transcripts associated with this gene.

Gene

COL8A2

Gene Name

collagen type VIII alpha 2

There are no transcripts associated with this gene.

Gene

TEKT2

Gene Name

tektin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014466.2	367	Missense Mutation	AAT,GAT	N90D	NP_055281.2
XM_005270753.2	367	Missense Mutation	AAT,GAT	N90D	XP_005270810.1
XM_011541258.2	367	Missense Mutation	AAT,GAT	N90D	XP_011539560.1
XM_017001055.1	367	Missense Mutation	AAT,GAT	N90D	XP_016856544.1

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