Links from Gene
Items: 1 to 20 of 1292
1.
rs1490040528 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:21000779
(GRCh38)
14:21468938
(GRCh37)
- Canonical SPDI:
- NC_000014.9:21000778:G:C
- Gene:
- SLC39A2 (Varview), LOC101929718 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
3.
rs1489067365 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:20999881
(GRCh38)
14:21468040
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20999880:A:C
- Gene:
- SLC39A2 (Varview), LOC101929718 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
4.
rs1488878673 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:20999801
(GRCh38)
14:21467960
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20999800:G:C
- Gene:
- SLC39A2 (Varview), LOC101929718 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000028/1
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
5.
rs1488486359 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:21000432
(GRCh38)
14:21468591
(GRCh37)
- Canonical SPDI:
- NC_000014.9:21000431:G:A
- Gene:
- SLC39A2 (Varview), LOC101929718 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1487682795 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:20997706
(GRCh38)
14:21465865
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20997705:C:T
- Gene:
- SLC39A2 (Varview), LOC101929718 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
7.
rs1487404345 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:20998093
(GRCh38)
14:21466252
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20998092:T:G
- Gene:
- SLC39A2 (Varview), LOC101929718 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1486804790 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:20999036
(GRCh38)
14:21467195
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20999035:A:G
- Gene:
- SLC39A2 (Varview), LOC101929718 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1486039902 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:20997568
(GRCh38)
14:21465727
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20997567:C:T
- Gene:
- SLC39A2 (Varview), LOC101929718 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1485678425 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:21001495
(GRCh38)
14:21469654
(GRCh37)
- Canonical SPDI:
- NC_000014.9:21001494:A:G
- Gene:
- SLC39A2 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
11.
rs1484763805 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:21000256
(GRCh38)
14:21468415
(GRCh37)
- Canonical SPDI:
- NC_000014.9:21000255:G:A
- Gene:
- SLC39A2 (Varview), LOC101929718 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1484129477 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:21000133
(GRCh38)
14:21468292
(GRCh37)
- Canonical SPDI:
- NC_000014.9:21000132:G:C
- Gene:
- SLC39A2 (Varview), LOC101929718 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,3_prime_UTR_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
13.
rs1484036197 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:20998834
(GRCh38)
14:21466993
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20998833:C:T
- Gene:
- SLC39A2 (Varview), LOC101929718 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
14.
rs1481217007 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:20997984
(GRCh38)
14:21466143
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20997983:A:T
- Gene:
- SLC39A2 (Varview), LOC101929718 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
15.
rs1481001473 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:20999009
(GRCh38)
14:21467168
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20999008:G:A
- Gene:
- SLC39A2 (Varview), LOC101929718 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
17.
rs1480441519 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 14:21001473
(GRCh38)
14:21469632
(GRCh37)
- Canonical SPDI:
- NC_000014.9:21001472:T:C,NC_000014.9:21001472:T:G
- Gene:
- SLC39A2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
NC_000014.9:g.21001473T>C, NC_000014.9:g.21001473T>G, NC_000014.8:g.21469632T>C, NC_000014.8:g.21469632T>G, NG_017065.1:g.7219T>C, NG_017065.1:g.7219T>G, NM_014579.4:c.824T>C, NM_014579.4:c.824T>G, NM_014579.3:c.824T>C, NM_014579.3:c.824T>G, NM_001256588.2:c.*561T>C, NM_001256588.2:c.*561T>G, NM_001256588.1:c.*561T>C, NM_001256588.1:c.*561T>G, NR_033419.1:n.1011T>C, NR_033419.1:n.1011T>G, NP_055394.2:p.Leu275Pro, NP_055394.2:p.Leu275Arg
18.
rs1479909389 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:21000570
(GRCh38)
14:21468729
(GRCh37)
- Canonical SPDI:
- NC_000014.9:21000569:C:G
- Gene:
- SLC39A2 (Varview), LOC101929718 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
19.
rs1479504796 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 14:21001574
(GRCh38)
14:21469733
(GRCh37)
- Canonical SPDI:
- NC_000014.9:21001573:G:A,NC_000014.9:21001573:G:C
- Gene:
- SLC39A2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,3_prime_UTR_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000005/1
(GnomAD_exomes)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000014.9:g.21001574G>A, NC_000014.9:g.21001574G>C, NC_000014.8:g.21469733G>A, NC_000014.8:g.21469733G>C, NG_017065.1:g.7320G>A, NG_017065.1:g.7320G>C, NM_014579.4:c.925G>A, NM_014579.4:c.925G>C, NM_014579.3:c.925G>A, NM_014579.3:c.925G>C, NM_001256588.2:c.*662G>A, NM_001256588.2:c.*662G>C, NM_001256588.1:c.*662G>A, NM_001256588.1:c.*662G>C, NR_033419.1:n.1112G>A, NR_033419.1:n.1112G>C, NP_055394.2:p.Ala309Thr, NP_055394.2:p.Ala309Pro
20.
rs1478598155 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:21001205
(GRCh38)
14:21469364
(GRCh37)
- Canonical SPDI:
- NC_000014.9:21001204:C:T
- Gene:
- SLC39A2 (Varview)
- Functional Consequence:
- coding_sequence_variant,stop_gained,3_prime_UTR_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS: