Product Details

SNP ID

rs201117044

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:2948315 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTGTCCTCACGGAGAGGAAAAGC[A/G]GCCGCAGAAGAGAATCCCGTTGGTC

Phenotype

MIM: 173321

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SERPINB6 PubMed Links

Gene Details

Gene

SERPINB6

Gene Name

serpin family B member 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001195291.2	1698	Missense Mutation	CGC,TGC	R376C	NP_001182220.2
NM_001271822.1	1698	Missense Mutation	CGC,TGC	R386C	NP_001258751.1
NM_001271823.1	1698	Missense Mutation	CGC,TGC	R391C	NP_001258752.1
NM_001271824.1	1698	Missense Mutation	CGC,TGC	R372C	NP_001258753.1
NM_001271825.1	1698	Missense Mutation	CGC,TGC	R372C	NP_001258754.1
NM_001297699.1	1698	Missense Mutation	CGC,TGC	R372C	NP_001284628.1
NM_001297700.1	1698	Missense Mutation	CGC,TGC	R372C	NP_001284629.1
NM_004568.5	1698	Missense Mutation	CGC,TGC	R372C	NP_004559.4
XM_011514672.1	1698	Missense Mutation	CGC,TGC	R450C	XP_011512974.1
XM_011514673.1	1698	Missense Mutation	CGC,TGC	R372C	XP_011512975.1
XM_011514674.2	1698	Missense Mutation	CGC,TGC	R372C	XP_011512976.1
XM_011514676.2	1698	Missense Mutation	CGC,TGC	R328C	XP_011512978.1
XM_017010940.1	1698	Missense Mutation	CGC,TGC	R376C	XP_016866429.1
XM_017010941.1	1698	Missense Mutation	CGC,TGC	R328C	XP_016866430.1

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