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See other ACVR1 GT Assays ›
SNP ID:
rs12997
Gene
ACVR1
Gene Name
Set Membership:
> HapMap > Validated
Chromosome Location:
Chr.2: 157736845 - 157736845 on Build GRCh38
Polymorphism:
A/G, Transition substitution
Context Sequence [VIC/FAM]:

TAAAAATAAGCTTTAACATATGCAC[A/G]AAGCAGTTTTGTAAAAACTACTAAG

Assay ID C___7545093_10
Size
Availability Made To Order
Catalog # 4351379
Price
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Assay Details



Species:

 Human

dbSNP Submissions:

 NA

Phenotype:

 MIM: 102576

Literature Links:

 ACVR1 PubMed Links

Allele Nomenclature:

Minor Allele Frequency:
1000Genome Applied Biosystems® HapMap
Global
C (0.43)
(0.57)
Caucasian
G (0.24)
(0.76)
CEPH (CEU)
C (0.27)
(0.73)
EAS
C (0.29)
(0.71)
African American
A (0.22)
(0.78)
YRI (Yoruba)
T (0.04)
(0.96)
SAS
C (0.19)
(0.81)
Japanese
G (0.22)
(0.78)
JPT (Japanese)
C (0.25)
(0.75)
AFR
T (0.06)
(0.94)
Chinese
G (0.32)
(0.68)
CHB (Han Chinese)
C (0.29)
(0.71)
EUR
C (0.27)
(0.73)
AMR
C (0.25)
(0.75)
ACVR1 - activin A receptor type 1
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_001105.4 2598 UTR 3 NP_001096.1
NM_001111067.2 2598 UTR 3 NP_001104537.1
XM_005246939.3 2598 UTR 3 XP_005246996.1
XM_005246940.3 2598 UTR 3 XP_005246997.1
XM_006712825.3 2598 UTR 3 XP_006712888.1
XM_011512106.2 2598 UTR 3 XP_011510408.1
XM_011512107.2 2598 UTR 3 XP_011510409.1
XM_011512108.2 2598 UTR 3 XP_011510410.1

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More Information


Set Membership:

 HapMap Validated

Panther Classification:

Gene Ontology Categories:

Function(s) Process(es)


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