Product Details

SNP ID

rs1048692

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:63880287 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCACCTTCCACGACCAGGAGAGGCA[C/G]TGGGGAGGGGTCACAGGGATGCCAC

Phenotype

MIM: 118820 MIM: 139240

Polymorphism

C/G, 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	825	UTR 3			NP_002050.1
NM_022556.3	825	UTR 3			NP_072050.1
NM_022557.3	825	UTR 3			NP_072051.1
NM_022558.3	825	Missense Mutation	CAC,CAG	H228Q	NP_072052.1

Gene

LOC107987248

Gene Name

intercellular adhesion molecule 1-like

There are no transcripts associated with this gene.

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