Product Details

SNP ID

rs151119695

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:52501268 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGACGTGTCCCTCAGGCTGGCTG[C/T]GGGAGCTCCCGGATCAGATAACCCA

Phenotype

MIM: 615507 MIM: 608560

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NISCH PubMed Links

Gene Details

Gene

NISCH

Gene Name

nischarin

There are no transcripts associated with this gene.

Gene

STAB1

Gene Name

stabilin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015136.2	257	Missense Mutation	CGG,TGG	R61W	NP_055951.2
XM_005264973.3	257	Missense Mutation	CGG,TGG	R61W	XP_005265030.1
XM_005264974.2	257	Missense Mutation	CGG,TGG	R61W	XP_005265031.1
XM_006713065.1	257	Missense Mutation	CGG,TGG	R61W	XP_006713128.1
XM_017005998.1	257	Missense Mutation	CGG,TGG	R61W	XP_016861487.1
XM_017005999.1	257	Missense Mutation	CGG,TGG	R61W	XP_016861488.1
XM_017006000.1	257	Missense Mutation	CGG,TGG	R61W	XP_016861489.1
XM_017006001.1	257	Missense Mutation	CGG,TGG	R61W	XP_016861490.1
XM_017006002.1	257	Missense Mutation	CGG,TGG	R61W	XP_016861491.1
XM_017006003.1	257	Missense Mutation	CGG,TGG	R61W	XP_016861492.1
XM_017006004.1	257	Missense Mutation	CGG,TGG	R61W	XP_016861493.1

View Full Product Details