Product Details

SNP ID

rs11555272

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:40580403 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GAGGACGGCCAGCCCCTGTCCGACG[C/G]AGCAACACGATGCCCCCCAACCTTG

Phenotype

MIM: 606214

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

SHKBP1 PubMed Links

Gene Details

Gene

SHKBP1

Gene Name

SH3KBP1 binding protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138392.3	529	Silent Mutation	CGC,CGG	R160R	NP_612401.2
XM_006723474.1	529	Silent Mutation	CGC,CGG	R160R	XP_006723537.1
XM_006723475.1	529	Silent Mutation	CGC,CGG	R160R	XP_006723538.1
XM_011527492.1	529	Silent Mutation	CGC,CGG	R160R	XP_011525794.1
XM_011527493.1	529	UTR 5			XP_011525795.1
XM_017027473.1	529	Silent Mutation	CGC,CGG	R160R	XP_016882962.1
XM_017027474.1	529	UTR 5			XP_016882963.1

Gene

SPTBN4

Gene Name

spectrin beta, non-erythrocytic 4

There are no transcripts associated with this gene.

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