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SNP linked to Gene HBG2 (geneID:3048) Via Contig Annotation

rs# on all gene models to Batch Query
all rs# to file.

  Gene Model (mRNA alignment) information from genome sequence back to top
Total gene model (contig mRNA transcript): 1
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_000184.2minus strandNP_000175.1reverseNT_009237.19GRCh38<- currently shown

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38NT_009237.19NM_000184.2NP_000175.1reverseminus strand11, coding

Region Chr.
position
mRNA
pos
dbSNP rs#
cluster id
Hetero-
zygosity
Validation MAF Allele
origin
3D Linkout Function dbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
PubMed
5253282492 rs386582961 N.D. missenseTTyr [Y]1147
contig referenceCHis [H]1147
5253292482 rs143904799 0.001byClusterbyFreqWith1000GenomeData0.0005 YessynonymousTSer [S]3143
contig referenceCSer [S]3143
5253299475 rs147282516 0.000 YesmissenseAAsp [D]2141
contig referenceCAla [A]2141
5253311463 rs200060381 0.002 YesmissenseCAla [A]2137
contig referenceGGly [G]2137
5253327447 rs138822610 0.000 YesnonsenseT1132
contig referenceCGln [Q]1132
5253330444 rs386584120 N.D. missenseGGly [G]1131
contig referenceTTrp [W]1131
5253348426 rs371787841 N.D. YesmissenseTSer [S]1125
contig referenceCPro [P]1125
5253382392 rs201444721 0.002byClusterWith1000GenomeData0.0009 YessynonymousTThr [T]3113
contig referenceCThr [T]3113
5253400374 rs141265341 0.000 YessynonymousALeu [L]3107
contig referenceGLeu [L]3107
5254370290 rs150789749 0.000 YessynonymousCLeu [L]379
contig referenceGLeu [L]379
5254436224 rs376058486 N.D. YessynonymousTGly [G]357
contig referenceCGly [G]357

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