Product Details

SNP ID
rs2727307
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:63910210 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCTAGGTCCTTTAGGAGGTGATA[G/T]TCATCGCTGTCCGAGGTGTCATACA
Phenotype
MIM: 603515 MIM: 139250
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CSHL1 PubMed Links

Gene Details

Gene
CSHL1
Gene Name
chorionic somatomammotropin hormone like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318.3 375 Missense Mutation GAA,GAC E47D NP_001309.3
NM_001321067.1 375 Missense Mutation GAA,GAC E81D NP_001307996.1
NM_001321068.1 375 Missense Mutation GAA,GAC E79D NP_001307997.1
NM_001321069.1 375 Missense Mutation GAA,GAC E102D NP_001307998.1
NM_022579.2 375 Missense Mutation GAA,GAC E141D NP_072101.1
NM_022580.2 375 Missense Mutation GAA,GAC E58D NP_072102.1
NM_022581.2 375 Missense Mutation GAA,GAC E118D NP_072103.1
XM_011524344.1 375 Missense Mutation GAA,GAC E141D XP_011522646.1
XM_011524346.2 375 Missense Mutation GAA,GAC E81D XP_011522648.1
Gene
GH1
Gene Name
growth hormone 1
There are no transcripts associated with this gene.

View Full Product Details