Product Details

SNP ID

rs138129923

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:46581841 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTGTCATCAGCTTGCGTGATCCCC[A/T]GTTCACTCAACCTTTTCTTCTTTAT

Phenotype

MIM: 611027

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

SHCBP1 PubMed Links

Gene Details

Gene

SHCBP1

Gene Name

SHC binding and spindle associated 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001324318.1	1836	Missense Mutation	CAG,CTG	Q598L	NP_001311247.1
NM_001324319.1	1836	Missense Mutation	CAG,CTG	Q558L	NP_001311248.1
NM_024745.4	1836	Missense Mutation	CAG,CTG	Q636L	NP_079021.3
XM_011523335.2	1836	Intron			XP_011521637.1

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