Product Details

SNP ID

rs138304922

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:321787 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCATGGCCATGACCCCAGTTATCC[A/G]GCTGTCCAGCTTTCCAATTTCTTTT

Phenotype

MIM: 607621

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

COLEC12 PubMed Links

Gene Details

Gene

COLEC12

Gene Name

collectin subfamily member 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_130386.2	2157	Missense Mutation	CCG,CTG	P695L	NP_569057.1
XM_011525741.2	2157	Missense Mutation	CCG,CTG	P678L	XP_011524043.1

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