Product Details

SNP ID

rs140531979

Assay Type

Functionally tested

NCBI dbSNP Submissions

15

Location

Chr.1:197040558 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATACATCTTGGATATTTTAACTGC[C/T]CTCTGTCACATTGCATTCTAAGTAT

Phenotype

MIM: 134580

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

F13B PubMed Links

Gene Details

Gene

F13B

Gene Name

coagulation factor XIII B chain

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001994.2	1954	Missense Mutation	GAG,GGG	E639G	NP_001985.2
XM_011509283.2	1954	Missense Mutation	GAG,GGG	E639G	XP_011507585.1
XM_011509284.2	1954	Missense Mutation	GAG,GGG	E638G	XP_011507586.1
XM_011509286.2	1954	Missense Mutation	GAG,GGG	E591G	XP_011507588.1

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