Product Details

SNP ID
rs141576938
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:63910802 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGTCAATGGCCAGCTGGTGTGCGC[C/G]ATGGGCTTGGAGCATAGCCTCTTTA
Phenotype
MIM: 603515 MIM: 139250
Polymorphism
C/G, 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_001318.3 265 Intron NP_001309.3
NM_001321067.1 265 Intron NP_001307996.1
NM_001321068.1 265 Intron NP_001307997.1
NM_001321069.1 265 Intron NP_001307998.1
NM_022579.2 265 Missense Mutation CGC,GGC R45G NP_072101.1
NM_022580.2 265 Intron NP_072102.1
NM_022581.2 265 Missense Mutation CGC,GGC R45G NP_072103.1
XM_011524344.1 265 Missense Mutation CGC,GGC R45G XP_011522646.1
XM_011524346.2 265 Intron XP_011522648.1
Gene
GH1
Gene Name
growth hormone 1
There are no transcripts associated with this gene.

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