Product Details

SNP ID

rs2245601

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.2:232526227 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

GTCAGAGGGATGGGATGGAGGGGCC[A/G]GTGCTGACACTGGGGCTGCTGGCTG

Phenotype

MIM: 100720 MIM: 613858

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CHRND PubMed Links

Gene Details

Gene

CHRND

Gene Name

cholinergic receptor nicotinic delta subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000751.2	40	Silent Mutation	CCA,CCG	P4P	NP_000742.1
NM_001256657.1	40	Silent Mutation	CCA,CCG	P4P	NP_001243586.1
NM_001311195.1	40	UTR 5			NP_001298124.1
NM_001311196.1	40	UTR 5			NP_001298125.1
XM_011510524.2	40	UTR 5			XP_011508826.1

Gene

PRSS56

Gene Name

protease, serine 56

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001195129.1	40	Intron			NP_001182058.1

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