Product Details

SNP ID

rs1804758

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:142449463 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGGAGTCCAACCAAGATACATCTGG[C/T]ATAGTAAGTTTTCATCAGTAGCTTC

Phenotype

MIM: 601215 MIM: 607994

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATR PubMed Links

Gene Details

Gene

ATR

Gene Name

ATR serine/threonine kinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001184.3	7798	Missense Mutation	TAC,TGC	Y2634C	NP_001175.2
XM_011512924.1	7798	Missense Mutation	TAC,TGC	Y2636C	XP_011511226.1
XM_011512925.1	7798	Missense Mutation	TAC,TGC	Y2572C	XP_011511227.1
XM_011512926.2	7798	Intron			XP_011511228.1
XM_017006643.1	7798	Missense Mutation	TAC,TGC	Y2570C	XP_016862132.1

Gene

XRN1

Gene Name

5'-3' exoribonuclease 1

There are no transcripts associated with this gene.

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