Product Details

SNP ID

rs199573954

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:1791148 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCACAGGCTCTGCTCCTCAATGC[C/G]CACGAGGCCGTTGTCCTTGAGGAAG

Phenotype

MIM: 601489 MIM: 610779 MIM: 611659

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

IGFALS PubMed Links

Gene Details

Gene

IGFALS

Gene Name

insulin like growth factor binding protein acid labile subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001146006.1	1465	Missense Mutation	CGC,GGC	R462G	NP_001139478.1
NM_004970.2	1465	Missense Mutation	CGC,GGC	R424G	NP_004961.1

Gene

NUBP2

Gene Name

nucleotide binding protein 2

There are no transcripts associated with this gene.

Gene

SPSB3

Gene Name

splA/ryanodine receptor domain and SOCS box containing 3

There are no transcripts associated with this gene.

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