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SNP ID:
rs7946
Gene
PEMT RASD1
Gene Name
Set Membership:
> HapMap > Validated
Chromosome Location:
Chr.17: 17506246 - 17506246 on Build GRCh38
Polymorphism:
T/C, Transition substitution
Context Sequence [VIC/FAM]:

ACTCACTCTTCGTATAGGAGAGCCA[T/C]TATGTAGGTGAGGGCCACCAGCACC

Assay ID C___9245965_10
Size
Availability Made To Order
Catalog # 4351379
Price
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Assay Details



Species:

 Human

dbSNP Submissions:

 NA

Phenotype:

 MIM: 602391 MIM: 605550

Literature Links:

 PEMT PubMed Links

Allele Nomenclature:

Minor Allele Frequency:
1000Genome Applied Biosystems® HapMap
Global
T (0.42)
(0.58)
Caucasian
C (0.30)
(0.70)
CEPH (CEU)
C (0.26)
(0.74)
EAS
T (0.17)
(0.83)
African American
T (0.44)
(0.56)
YRI (Yoruba)
T (0.35)
(0.65)
SAS
T (0.44)
(0.56)
Japanese
T (0.22)
(0.78)
JPT (Japanese)
T (0.26)
(0.74)
AFR
T (0.32)
(0.68)
Chinese
T (0.15)
(0.85)
CHB (Han Chinese)
T (0.08)
(0.92)
EUR
C (0.30)
(0.70)
AMR
C (0.44)
(0.56)
PEMT - phosphatidylethanolamine N-methyltransferase
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_001267551.1 498 Missense Mutation ATG,GTG M,V 190 NP_001254480.1
NM_001267552.1 498 Missense Mutation AAT,AGT N,S 222 NP_001254481.1
NM_007169.2 498 Missense Mutation ATG,GTG M,V 175 NP_009100.2
NM_148172.2 498 Missense Mutation ATG,GTG M,V 212 NP_680477.1
NM_148173.1 498 Missense Mutation ATG,GTG M,V 175 NP_680478.1
XM_006721418.3 498 Missense Mutation ATG,GTG M,V 191 XP_006721481.2
XM_017024016.1 498 Missense Mutation ATG,GTG M,V 101 XP_016879505.1
RASD1 - ras related dexamethasone induced 1
There are no transcripts associated with this gene.

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