Product Details

SNP ID

rs189664077

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:85696006 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGCTGGGCCGTGACTACAGGACC[G/T]GTCTGACGATAGTCCAAAAACTGAA

Phenotype

MIM: 188855

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

GNLY PubMed Links

Gene Details

Gene

GNLY

Gene Name

granulysin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001302758.1	347	Missense Mutation	GGT,TGT	G96C	NP_001289687.1
NM_006433.4	347	Missense Mutation	GGT,TGT	G69C	NP_006424.2
NM_012483.3	347	Missense Mutation	GGT,TGT	G54C	NP_036615.2
XM_005264084.2	347	Missense Mutation	GGT,TGT	G96C	XP_005264141.1
XM_005264085.2	347	Missense Mutation	GGT,TGT	G69C	XP_005264142.1
XM_005264087.2	347	Missense Mutation	GGT,TGT	G54C	XP_005264144.1

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