Product Details

SNP ID

rs149993265

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:43530867 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTGTTCCAGCCTCATCATAGCTT[C/T]TGAACGTGCGCCGCATTGGCCTCCA

Phenotype

Polymorphism

C/T, 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	4343	Missense Mutation	AAA,AGA	K1444R	NP_073622.2
NM_198856.2	4343	Missense Mutation	AAA,AGA	K1292R	NP_942153.1
XM_005261704.2	4343	Missense Mutation	AAA,AGA	K1444R	XP_005261761.1
XM_005261705.3	4343	Missense Mutation	AAA,AGA	K1338R	XP_005261762.1
XM_011530316.1	4343	Missense Mutation	AAA,AGA	K1470R	XP_011528618.1
XM_011530317.2	4343	Missense Mutation	AAA,AGA	K1444R	XP_011528619.1
XM_011530318.2	4343	Missense Mutation	AAA,AGA	K1418R	XP_011528620.1
XM_011530319.2	4343	Missense Mutation	AAA,AGA	K1338R	XP_011528621.1
XM_011530320.2	4343	Missense Mutation	AAA,GAA	K1469E	XP_011528622.1
XM_011530321.2	4343	Missense Mutation	AAA,AGA	K1292R	XP_011528623.1
XM_011530322.2	4343	Missense Mutation	AAA,AGA	K1292R	XP_011528624.1
XM_011530323.2	4343	Missense Mutation	AAA,AGA	K1290R	XP_011528625.1
XM_011530325.2	4343	Missense Mutation	AAA,AGA	K1196R	XP_011528627.1
XM_011530326.2	4343	Intron			XP_011528628.1
XM_011530327.2	4343	Missense Mutation	AAA,AGA	K1136R	XP_011528629.1
XM_011530328.2	4343	Intron			XP_011528630.1
XM_011530329.1	4343	Missense Mutation	AAA,AGA	K742R	XP_011528631.1
XM_011530330.2	4343	Intron			XP_011528632.1
XM_017028910.1	4343	Missense Mutation	AAA,AGA	K1470R	XP_016884399.1
XM_017028911.1	4343	Missense Mutation	AAA,AGA	K1470R	XP_016884400.1
XM_017028912.1	4343	Missense Mutation	AAA,AGA	K1286R	XP_016884401.1

Gene

EFCAB6-AS1

Gene Name

EFCAB6 antisense RNA 1

There are no transcripts associated with this gene.

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