Product Details

SNP ID

rs137853221

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:63917803 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTTCCTCTAGGTCCTTTAGGAGG[C/T]CATAGACGTTGCTGTCAGAGGCGCC

Phenotype

MIM: 603515 MIM: 139250

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CSHL1 PubMed Links

Gene Details

Gene

CSHL1

Gene Name

chorionic somatomammotropin hormone like 1

There are no transcripts associated with this gene.

Gene

GH1

Gene Name

growth hormone 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000515.4	489	Missense Mutation	GAC,GGC	D138G	NP_000506.2
NM_022559.3	489	Missense Mutation	GAC,GGC	D123G	NP_072053.1
NM_022560.3	489	Missense Mutation	GAC,GGC	D98G	NP_072054.1

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