Product Details

SNP ID: rs11870440
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:30477440 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: CTGACGTTGGACGACAAAGATGGCG[A/G]CAGGGACCAGCAGTTACTGGGAAGG
Phenotype: MIM: 603102 MIM: 604026
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: CPD PubMed Links

Gene Details

There are no transcripts associated with this gene.

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001007024.1	33	UTR 5			NP_001007025.1
NM_001007025.1	33	Missense Mutation	ACA,GCA	T3A	NP_001007026.1
NM_004871.2	33	Missense Mutation	ACA,GCA	T3A	NP_004862.1
XM_005258070.4	33	Intron			XP_005258127.1
XM_005258071.4	33	Intron			XP_005258128.1
XM_005258072.2	33	UTR 5			XP_005258129.1
XM_017025374.1	33	Intron			XP_016880863.1
XM_017025375.1	33	Missense Mutation	ACA,GCA	T3A	XP_016880864.1
XM_017025376.1	33	Missense Mutation	ACA,GCA	T3A	XP_016880865.1
XM_017025377.1	33	Intron			XP_016880866.1