Product Details

SNP ID: rs1062557
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.18:59220275 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: GCTTCCCGTCGGGACCATGCGCGGC[A/C]GTGAGCTCCCGCTGGTCCTGCTGGC
Phenotype: MIM: 137260
Polymorphism: A/C, Transversion substitution
Allele Nomenclature
Literature Links: GRP PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001012512.2	102	Missense Mutation	AGT,CGT	S4R	NP_001012530.1
NM_001012513.2	102	Missense Mutation	AGT,CGT	S4R	NP_001012531.1
NM_002091.4	102	Missense Mutation	AGT,CGT	S4R	NP_002082.2
XM_011525933.2	102	Intron			XP_011524235.1
XM_017025712.1	102	Missense Mutation	AGT,CGT	S4R	XP_016881201.1
XM_017025713.1	102	Missense Mutation	AGT,CGT	S4R	XP_016881202.1
XM_017025714.1	102	Intron			XP_016881203.1