Product Details

SNP ID

rs140939056

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:43530828 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTGTGCTCACCGTCCTGAAATCT[A/G]CGACGCTTAGCAGCCCTGTTCCAGC

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EFCAB6 PubMed Links

Gene Details

Gene

EFCAB6

Gene Name

EF-hand calcium binding domain 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022785.3	4382	Missense Mutation			NP_073622.2
NM_198856.2	4382	Missense Mutation			NP_942153.1
XM_005261704.2	4382	Missense Mutation			XP_005261761.1
XM_005261705.3	4382	Missense Mutation			XP_005261762.1
XM_011530316.1	4382	Missense Mutation			XP_011528618.1
XM_011530317.2	4382	Missense Mutation			XP_011528619.1
XM_011530318.2	4382	Missense Mutation			XP_011528620.1
XM_011530319.2	4382	Missense Mutation			XP_011528621.1
XM_011530320.2	4382	UTR 3			XP_011528622.1
XM_011530321.2	4382	Missense Mutation			XP_011528623.1
XM_011530322.2	4382	Missense Mutation			XP_011528624.1
XM_011530323.2	4382	Missense Mutation			XP_011528625.1
XM_011530325.2	4382	Missense Mutation			XP_011528627.1
XM_011530326.2	4382	Intron			XP_011528628.1
XM_011530327.2	4382	Missense Mutation			XP_011528629.1
XM_011530328.2	4382	Intron			XP_011528630.1
XM_011530329.1	4382	Missense Mutation			XP_011528631.1
XM_011530330.2	4382	Intron			XP_011528632.1
XM_017028910.1	4382	Missense Mutation			XP_016884399.1
XM_017028911.1	4382	Missense Mutation			XP_016884400.1
XM_017028912.1	4382	Missense Mutation			XP_016884401.1

Gene

EFCAB6-AS1

Gene Name

EFCAB6 antisense RNA 1

There are no transcripts associated with this gene.

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