Product Details

SNP ID

rs113057755

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:106034242 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTAGTTTATCAACTTACATTGGAA[A/G]GTTTCAGACCATTGTCCTCTGTGAG

Phenotype

MIM: 314200

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SERPINA7 PubMed Links

Gene Details

Gene

SERPINA7

Gene Name

serpin family A member 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000354.5	1082	Missense Mutation	CCT,CTT	P346L	NP_000345.2
XM_005262180.3	1082	Missense Mutation	CCT,CTT	P346L	XP_005262237.1
XM_006724683.2	1082	Missense Mutation	CCT,CTT	P346L	XP_006724746.1

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