Product Details

SNP ID

rs62068292

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:1006167 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGCAGGTAGTAGAGGAGGACCTG[C/G]ACCTGTGGGGAGACAGGAAGGCGGA

Phenotype

MIM: 600365 MIM: 607251

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ABR PubMed Links

Gene Details

Gene

ABR

Gene Name

active BCR-related

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001092.4	2695	Silent Mutation	GTC,GTG	V794V	NP_001083.2
NM_001159746.2	2695	Silent Mutation	GTC,GTG	V785V	NP_001153218.1
NM_001256847.2	2695	Silent Mutation	GTC,GTG	V282V	NP_001243776.1
NM_001282149.1	2695	Silent Mutation	GTC,GTG	V613V	NP_001269078.1
NM_001322840.1	2695	Silent Mutation	GTC,GTG	V785V	NP_001309769.1
NM_001322841.1	2695	Silent Mutation	GTC,GTG	V1090V	NP_001309770.1
NM_001322842.1	2695	Intron			NP_001309771.1
NM_021962.4	2695	Silent Mutation	GTC,GTG	V831V	NP_068781.2
XM_011523810.2	2695	Silent Mutation	GTC,GTG	V850V	XP_011522112.1
XM_011523811.2	2695	Intron			XP_011522113.2
XM_011523812.2	2695	Silent Mutation	GTC,GTG	V837V	XP_011522114.1
XM_011523813.2	2695	Silent Mutation	GTC,GTG	V813V	XP_011522115.1
XM_011523814.2	2695	Silent Mutation	GTC,GTG	V804V	XP_011522116.1
XM_011523815.2	2695	Silent Mutation	GTC,GTG	V804V	XP_011522117.1
XM_017024539.1	2695	Silent Mutation	GTC,GTG	V1109V	XP_016880028.1
XM_017024540.1	2695	Silent Mutation	GTC,GTG	V1076V	XP_016880029.1
XM_017024541.1	2695	Intron			XP_016880030.1
XM_017024542.1	2695	Silent Mutation	GTC,GTG	V635V	XP_016880031.1
XM_017024543.1	2695	Silent Mutation	GTC,GTG	V632V	XP_016880032.1

Gene

TIMM22

Gene Name

translocase of inner mitochondrial membrane 22 homolog (yeast)

There are no transcripts associated with this gene.

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