Product Details

SNP ID

rs2240572

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.7:12570968 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

AAGACGAGCCGAGGCTTCACCTACC[A/G]CCTGCACTTCTGGCTCGGTAAGGGA

Phenotype

MIM: 613416

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SCIN PubMed Links

Gene Details

Gene

SCIN

Gene Name

scinderin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001112706.2	392	Missense Mutation	CAC,CGC	H61R	NP_001106177.1
NM_033128.3	392	Intron			NP_149119.1

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