Product Details

SNP ID: rs143106518
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:63880776 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GATCCCTGGTGCCACCCTCACCCAC[A/T]TCAGCGTTTGGATGCCTTCCTCTAG
Phenotype: MIM: 118820 MIM: 139240
Polymorphism: A/T, Transversion substitution
Allele Nomenclature
Literature Links: CSH2 PubMed Links

Gene Details

Gene: CSH2
Gene Name: chorionic somatomammotropin hormone 2

There are no transcripts associated with this gene.

Gene: GH2
Gene Name: growth hormone 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002059.4	593	Missense Mutation	AAG,ATG	K151M	NP_002050.1
NM_022556.3	593	Missense Mutation	AAG,ATG	K136M	NP_072050.1
NM_022557.3	593	Missense Mutation	AAG,ATG	K151M	NP_072051.1
NM_022558.3	593	Missense Mutation	AAA,ATA	K151I	NP_072052.1

Gene: LOC107987248
Gene Name: intercellular adhesion molecule 1-like

There are no transcripts associated with this gene.

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